ClinVar Miner

List of variants studied for Usher syndrome type 2A by WangQJ Lab, Chinese People's Liberation Army General Hospital

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr) rs773373939
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu) rs1657805631
NM_206933.4(USH2A):c.14969-2A>G rs2102634730
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs) rs2102554196
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs) rs2102524828
NM_206933.4(USH2A):c.6326-10882_6326-10769del rs2102492616

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