ClinVar Miner

List of variants reported as uncertain significance for cataract 9 multiple types

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_000394.4(CRYAA):c.335G>A (p.Arg112His) rs200594555 0.00008
NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys) rs369609046 0.00008
NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp) rs376164744 0.00006
NM_000394.4(CRYAA):c.*333G>A rs886057108 0.00003
NM_000394.4(CRYAA):c.*376G>C rs886057109 0.00003
NM_000394.4(CRYAA):c.*398G>A rs886057110 0.00003
NM_000394.4(CRYAA):c.245C>T (p.Pro82Leu) rs200183640 0.00003
NM_000394.4(CRYAA):c.464C>A (p.Ala155Asp) rs143992484 0.00003
NM_000394.4(CRYAA):c.481G>A (p.Val161Met) rs757584843 0.00003
NM_000394.4(CRYAA):c.375C>A (p.Asp125Glu) rs886057104 0.00002
NM_000394.4(CRYAA):c.75G>C (p.Gln25His) rs754701447 0.00002
NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr) rs1227057051 0.00001
NC_000021.8:g.(?_43160998)_(47865240_?)dup
NM_000394.4(CRYAA):c.*156T>G rs553059975
NM_000394.4(CRYAA):c.*193G>A rs886057106
NM_000394.4(CRYAA):c.*253C>T rs886057107
NM_000394.4(CRYAA):c.*380G>A rs370015697
NM_000394.4(CRYAA):c.-30C>G rs1985729237
NM_000394.4(CRYAA):c.190-24_190-10del
NM_000394.4(CRYAA):c.199G>C (p.Asp67His) rs747872625
NM_000394.4(CRYAA):c.269A>C (p.Gln90Pro) rs886057103
NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup) rs2146498671
NM_000394.4(CRYAA):c.349C>T (p.Arg117Cys) rs760958782
NM_000394.4(CRYAA):c.35G>A (p.Arg12His) rs776884812
NM_000394.4(CRYAA):c.488G>A (p.Arg163Gln) rs886057105
NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)
NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)
NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)

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