ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by Mendelics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_001195794.1(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_007123.5(USH2A):c.1547G>T (p.Gly516Val) rs1415484067
NM_007123.5(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586
NM_206933.2(USH2A):c.3368A>G rs775177930
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.3(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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