| USH1C R31X | insufficiently evaluated pathogenic | unknown |
(13 web hits) | |
| USH1C H34R | insufficiently evaluated none, f=0.005 | unknown |
(1 web hit) | var-GS19017-1100-36-ASM |
| USH1C V130I | uncertain benign, f=0.017 | unknown | This moderately common variant (1000 genomes allele frequency of 6.2%) was reported found heterozygously in a patient with Usher syndrome. However, the high allele frequency and fact that it is a conservative amino acid change supports classifying this variant as benign.
(5 web hits) | var-GS19703-1100-36-ASM |
| USH1C V135I | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| USH1C R155P | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18942-1100-36-ASM |
| USH1C S281R | insufficiently evaluated not reviewed | unknown |
| |
| USH1C G379D | insufficiently evaluated not reviewed | unknown |
| hu34D5B9 exome |
| USH1C E519D | insufficiently evaluated not reviewed | unknown |
(10 web hits) | hu728FFF build 36 substitution variants |
| USH1C R608P | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| USH1C R620L | insufficiently evaluated not reviewed, f=0.010 | unknown |
| CGI sample GS00253-DNA_B02_200_37 |
| USH1C A783S | insufficiently evaluated not reviewed, f=0.015 | unknown |
| var-GS19700-1100-36-ASM |
| USH1C E819D | insufficiently evaluated not reviewed, f=0.517 | unknown |
(6 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| USH1C A871T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |