ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 36
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HGVS dbSNP
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6958-8A>T rs769264662
NM_206933.3(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
NM_206933.4(USH2A):c.11815_11817dup (p.Glu3939dup)
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.4(USH2A):c.4085C>T (p.Pro1362Leu)
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.4(USH2A):c.4771G>A (p.Glu1591Lys)
NM_206933.4(USH2A):c.5298+3A>G
NM_206933.4(USH2A):c.5598T>C (p.Val1866=)
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)

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