ClinVar Miner

List of variants in gene CRYAB studied for early-onset partial cataract

Included ClinVar conditions (6):
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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_001289808.2(CRYAB):c.-21C>T rs376222434 0.00019
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr) rs1349139935 0.00006
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp) rs534473091 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg) rs1256600488 0.00004
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His) rs782809283 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) rs145768025 0.00003
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met) rs782122417 0.00003
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His) rs782316391 0.00003
NM_001289808.2(CRYAB):c.*60G>A rs540926728 0.00001
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr) rs1264081192 0.00001
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp) rs1555165555 0.00001
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) rs387907338 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg) rs781915800 0.00001
NM_001289808.2(CRYAB):c.*107A>G rs886047686
NM_001289808.2(CRYAB):c.*38G>C rs781853968
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) rs145768025
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr) rs794728982
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) rs1555165546
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys) rs782520163
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly) rs781902168
NM_001289808.2(CRYAB):c.324+13dup rs782303631
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) rs387907336
NM_001289808.2(CRYAB):c.450del (p.Lys150fs) rs1566402656
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001289808.2(CRYAB):c.525del (p.Lys175fs) rs2137378244
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) rs387907337

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