ClinVar Miner

List of variants in gene GJA3 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 109
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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.*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.*2093A>C rs1040384781 0.00031
NM_021954.4(GJA3):c.261G>A (p.Thr87=) rs368890350 0.00031
NM_021954.4(GJA3):c.*1449C>T rs867076363 0.00029
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.*2311A>C rs555846962 0.00017
NM_021954.4(GJA3):c.-41G>T rs886050024 0.00016
NM_021954.4(GJA3):c.852C>G (p.Ala284=) rs557677250 0.00016
NM_021954.4(GJA3):c.*1176A>C rs886050014 0.00014
NM_021954.4(GJA3):c.*2931A>G rs544693111 0.00014
NM_021954.4(GJA3):c.*2107T>A rs553286295 0.00011
NM_021954.4(GJA3):c.*3509C>G rs966696205 0.00011
NM_021954.4(GJA3):c.*2695C>T rs774238106 0.00008
NM_021954.4(GJA3):c.1233C>T (p.Leu411=) rs543711227 0.00007
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) rs766975987 0.00006
NM_021954.4(GJA3):c.*1931G>C rs1244045985 0.00005
NM_021954.4(GJA3):c.*532A>G rs1169670475 0.00005
NM_021954.4(GJA3):c.*101G>A rs886050019 0.00004
NM_021954.4(GJA3):c.*1365G>A rs1032039343 0.00004
NM_021954.4(GJA3):c.*1841C>T rs886050011 0.00004
NM_021954.4(GJA3):c.*553C>T rs886050016 0.00004
NM_021954.4(GJA3):c.*1232T>C rs886050013 0.00003
NM_021954.4(GJA3):c.*3108C>T rs886050006 0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_021954.4(GJA3):c.*1535C>T rs1190517873 0.00002
NM_021954.4(GJA3):c.*2079A>G rs886050010 0.00002
NM_021954.4(GJA3):c.*3609G>A rs767584645 0.00002
NM_021954.4(GJA3):c.522G>A (p.Glu174=) rs772086761 0.00002
NM_021954.4(GJA3):c.*1565A>G rs886050012 0.00001
NM_021954.4(GJA3):c.*2340A>G rs1008861631 0.00001
NM_021954.4(GJA3):c.*3210A>G rs779184721 0.00001
NM_021954.4(GJA3):c.*647G>A rs549434985 0.00001
NM_021954.4(GJA3):c.*691G>A rs560674293 0.00001
NM_021954.4(GJA3):c.-98G>A rs935261635 0.00001
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu) rs886050020 0.00001
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp) rs1958811300 0.00001
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg) rs1477019809 0.00001
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln) rs753251437 0.00001
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly) rs886050023 0.00001
NM_021954.4(GJA3):c.780G>A (p.Arg260=) rs764418101 0.00001
NM_021954.4(GJA3):c.84G>A (p.Val28=) rs531379398 0.00001
NM_021954.4(GJA3):c.*1239C>G rs575890873
NM_021954.4(GJA3):c.*1495G>C rs1324857690
NM_021954.4(GJA3):c.*1760G>A rs183550581
NM_021954.4(GJA3):c.*186TG[1] rs35815144
NM_021954.4(GJA3):c.*1941C>G rs960605395
NM_021954.4(GJA3):c.*1965C>T rs1958798103
NM_021954.4(GJA3):c.*198T>C rs886050018
NM_021954.4(GJA3):c.*201G>C rs1025195589
NM_021954.4(GJA3):c.*2086G>T rs1958797398
NM_021954.4(GJA3):c.*2363A>G rs1958795891
NM_021954.4(GJA3):c.*2829A>T rs886050009
NM_021954.4(GJA3):c.*2923A>G rs886050008
NM_021954.4(GJA3):c.*3099C>A rs886050007
NM_021954.4(GJA3):c.*3182T>G rs886050005
NM_021954.4(GJA3):c.*3373del rs144410256
NM_021954.4(GJA3):c.*3389G>A rs886050004
NM_021954.4(GJA3):c.*3393del rs886050003
NM_021954.4(GJA3):c.*420_*434delinsATAGA rs886050017
NM_021954.4(GJA3):c.*740G>C rs141947045
NM_021954.4(GJA3):c.*744A>G rs755473152
NM_021954.4(GJA3):c.*846G>A rs886050015
NM_021954.4(GJA3):c.*846G>C rs886050015
NM_021954.4(GJA3):c.1017G>A (p.Ala339=) rs11617415
NM_021954.4(GJA3):c.1065C>G (p.Val355=) rs989998887
NM_021954.4(GJA3):c.1089G>A (p.Ala363=) rs1958811917
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn) rs1958811054
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala) rs1047204525
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg) rs1958809965
NM_021954.4(GJA3):c.383A>T (p.Asp128Val) rs1440873571
NM_021954.4(GJA3):c.720G>A (p.Pro240=) rs746223535
NM_021954.4(GJA3):c.78G>A (p.Leu26=) rs1172500719
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser) rs886050022
NM_021954.4(GJA3):c.885G>C (p.Ala295=) rs886050021
NM_021954.4(GJA3):c.902C>T (p.Ala301Val) rs1460869929
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg) rs377190812

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