ClinVar Miner

List of variants in gene CRYGB, LOC100507443 studied for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu) rs796287 0.69716
NM_005210.4(CRYGB):c.192T>C (p.Pro64=) rs2854723 0.48090
NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp) rs76323117 0.00746
NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys) rs144172331 0.00020
NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys) rs370785666 0.00019
NM_005210.4(CRYGB):c.44G>A (p.Arg15His) rs370450145 0.00010
NM_005210.4(CRYGB):c.244A>G (p.Ile82Val) rs374476265 0.00005
NM_005210.4(CRYGB):c.312A>G (p.Ser104=) rs200750137 0.00001
NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro) rs1045592971 0.00001
NM_005210.4(CRYGB):c.513C>T (p.Val171=) rs541388467 0.00001
NC_000002.12:g.208146167G>A rs2289917
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005210.4(CRYGB):c.179G>A (p.Arg60His)
NM_005210.4(CRYGB):c.21C>T (p.Tyr7=)
NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)
NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu) rs200143566
NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)
NM_005210.4(CRYGB):c.72del (p.Asn25fs) rs387907342
NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)
NM_005210.4(CRYGB):c.9+11_9+13delinsAAA rs386654563

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