ClinVar Miner

List of variants studied for cataract 23

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001886.3(CRYBA4):c.171T>C (p.Phe57=) rs5761637 0.88601
NM_001886.3(CRYBA4):c.159-20A>G rs4276 0.57999
NM_001886.3(CRYBA4):c.300+3A>G rs56117601 0.06378
NM_001886.3(CRYBA4):c.444-18G>A rs75205052 0.03174
NM_001886.3(CRYBA4):c.106G>A (p.Val36Met) rs35520672 0.01724
NM_001886.3(CRYBA4):c.40-1G>C rs142090709 0.00358
NM_001886.3(CRYBA4):c.307C>T (p.Arg103Cys) rs149353652 0.00265
NM_001886.3(CRYBA4):c.324A>T (p.Thr108=) rs143137736 0.00206
NM_001886.3(CRYBA4):c.216C>T (p.Gly72=) rs148454808 0.00179
NM_001886.3(CRYBA4):c.465G>A (p.Pro155=) rs117467748 0.00111
NM_001886.3(CRYBA4):c.61G>A (p.Gly21Ser) rs201421932 0.00007
NM_001886.3(CRYBA4):c.158+1G>A rs752903519 0.00004
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.40-5C>T rs751503329 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.40-7G>T rs764078479 0.00001
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) rs780358100 0.00001
NM_001886.3(CRYBA4):c.81C>T (p.His27=) rs138148141 0.00001
NC_000022.10:g.(?_26142492)_(27026451_?)del
NM_001886.3(CRYBA4):c.108G>A (p.Val36=)
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.159-21_159-20inv
NM_001886.3(CRYBA4):c.169T>A (p.Phe57Ile)
NM_001886.3(CRYBA4):c.169T>G (p.Phe57Val) rs1929674480
NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp) rs1114167427
NM_001886.3(CRYBA4):c.198_200del (p.Gln66_Tyr67delinsHis) rs1929675709
NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro) rs74315487
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.258C>T (p.Tyr86=)
NM_001886.3(CRYBA4):c.277T>C (p.Ser93Pro) rs2145980854
NM_001886.3(CRYBA4):c.27G>A (p.Ala9=)
NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser) rs74315486
NM_001886.3(CRYBA4):c.300+1del
NM_001886.3(CRYBA4):c.318G>A (p.Arg106=)
NM_001886.3(CRYBA4):c.345C>T (p.Phe115=)
NM_001886.3(CRYBA4):c.34T>A (p.Trp12Arg)
NM_001886.3(CRYBA4):c.384C>T (p.Ser128=)
NM_001886.3(CRYBA4):c.40-11T>C
NM_001886.3(CRYBA4):c.40-11del
NM_001886.3(CRYBA4):c.442G>T (p.Ala148Ser)
NM_001886.3(CRYBA4):c.504C>G (p.His168Gln)
NM_001886.3(CRYBA4):c.510C>T (p.Ser170=)
NM_001886.3(CRYBA4):c.540C>A (p.Gly180=)
NM_001886.3(CRYBA4):c.575G>C (p.Arg192Pro) rs758790937
NM_001886.3(CRYBA4):c.60C>T (p.Asp20=)
NM_001886.3(CRYBA4):c.65T>C (p.Phe22Ser) rs1602338380
NM_001886.3(CRYBA4):c.89C>T (p.Thr30Met)
NM_001886.3(CRYBA4):c.90G>A (p.Thr30=)

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