ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_006017.3(PROM1):c.1983+5G>T rs1560421595
NM_022124.6(CDH23):c.1515-12G>A rs369396703
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) rs1561464218
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199

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