ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by Department of Ophthalmology and Visual Sciences Kyoto University

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_007123.5(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_032119.4(ADGRV1):c.12403+1G>T rs527236132
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138

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