ClinVar Miner

List of variants reported as uncertain significance for cataract 23 by Invitae

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001886.3(CRYBA4):c.26C>T (p.Ala9Val) rs530186829 0.00003
NM_001886.3(CRYBA4):c.300+2T>C rs372271933 0.00003
NM_001886.3(CRYBA4):c.262G>T (p.Ala88Ser) rs372922337 0.00002
NM_001886.3(CRYBA4):c.227G>C (p.Ser76Thr) rs776573050 0.00001
NM_001886.3(CRYBA4):c.352A>G (p.Lys118Glu) rs1305546354 0.00001
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) rs780358100 0.00001
NC_000022.10:g.(?_26142492)_(27026451_?)del
NM_001886.3(CRYBA4):c.136T>C (p.Ser46Pro) rs1929601316
NM_001886.3(CRYBA4):c.148del (p.Val49_Leu50insTer) rs2145979078
NM_001886.3(CRYBA4):c.169T>A (p.Phe57Ile)
NM_001886.3(CRYBA4):c.169T>G (p.Phe57Val) rs1929674480
NM_001886.3(CRYBA4):c.211C>T (p.Arg71Ter) rs199635152
NM_001886.3(CRYBA4):c.214G>A (p.Gly72Ser) rs1929676368
NM_001886.3(CRYBA4):c.300+1del
NM_001886.3(CRYBA4):c.34T>A (p.Trp12Arg)
NM_001886.3(CRYBA4):c.442G>T (p.Ala148Ser)
NM_001886.3(CRYBA4):c.504C>G (p.His168Gln)
NM_001886.3(CRYBA4):c.575G>C (p.Arg192Pro) rs758790937
NM_001886.3(CRYBA4):c.65T>C (p.Phe22Ser) rs1602338380

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