ClinVar Miner

List of variants in gene GJA3 reported as benign for cataract 14 multiple types

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_021954.4(GJA3):c.*2426C>A rs6490521 0.98063
NM_021954.4(GJA3):c.*618G>A rs9509051 0.98010
NM_021954.4(GJA3):c.895C>A (p.Leu299Met) rs968566 0.96584
NM_021954.4(GJA3):c.*2593A>T rs6490520 0.95210
NM_021954.4(GJA3):c.*319G>T rs1886176 0.24473
NM_021954.4(GJA3):c.*2602T>C rs6490519 0.24235
NM_021954.4(GJA3):c.*1257G>A rs12427963 0.21768
NM_021954.4(GJA3):c.*2231A>G rs59606061 0.18912
NM_021954.4(GJA3):c.*2469T>C rs60759737 0.18797
NM_021954.4(GJA3):c.*243G>A rs4769953 0.18639
NM_021954.4(GJA3):c.543C>T (p.Cys181=) rs74607195 0.03391
NM_021954.4(GJA3):c.*581A>G rs61950897 0.02766
NM_021954.4(GJA3):c.*3166C>T rs74035923 0.02351
NM_021954.4(GJA3):c.*509A>G rs141040647 0.01615
NM_021954.4(GJA3):c.*1083T>C rs144491437 0.01612
NM_021954.4(GJA3):c.*2864T>C rs140291136 0.01090
NM_021954.4(GJA3):c.*1997G>A rs58325462 0.00903
NM_021954.4(GJA3):c.375A>G (p.Pro125=) rs111863858 0.00642
NM_021954.4(GJA3):c.*2416A>G rs138134157 0.00529
NM_021954.4(GJA3):c.*358T>C rs186827757 0.00509
NM_021954.4(GJA3):c.*904G>T rs148572505 0.00384
NM_021954.4(GJA3):c.1086C>A (p.Leu362=) rs368180843 0.00339
NM_021954.4(GJA3):c.*223T>G rs78201355 0.00330
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln) rs149933083 0.00301
NM_021954.4(GJA3):c.*1351C>T rs138516703 0.00295
NM_021954.4(GJA3):c.231C>T (p.Phe77=) rs143508620 0.00277
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) rs141882615 0.00217
NM_021954.4(GJA3):c.*2870C>T rs575352846 0.00160
NM_021954.4(GJA3):c.-60G>A rs533095023 0.00143
NM_021954.4(GJA3):c.*47A>G rs75630774 0.00133
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg) rs201955819 0.00132
NM_021954.4(GJA3):c.*1957G>C rs142629563 0.00071
NM_021954.4(GJA3):c.*2831A>G rs529957247 0.00049
NM_021954.4(GJA3):c.*491T>A rs563280044 0.00046
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala) rs770718484 0.00031
NM_021954.4(GJA3):c.261G>A (p.Thr87=) rs368890350 0.00031
NM_021954.4(GJA3):c.1083A>C (p.Pro361=) rs779251021 0.00029
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu) rs145026721 0.00027
NM_021954.4(GJA3):c.771C>A (p.Pro257=) rs553789027 0.00013
NM_021954.4(GJA3):c.1233C>T (p.Leu411=) rs543711227 0.00007
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_021954.4(GJA3):c.84G>A (p.Val28=) rs531379398 0.00001
NM_021954.4(GJA3):c.1017G>A (p.Ala339=) rs11617415

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