List of variants in gene GJA5 reported as uncertain significance for atrial standstill 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_181703.4(GJA5):c.995G>A (p.Arg332His)	rs116551187	0.00037
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser)	rs121434557	0.00020
NM_181703.4(GJA5):c.365C>T (p.Ser122Phe)	rs781831348	0.00006
NM_181703.4(GJA5):c.199G>A (p.Asp67Asn)	rs150906806	0.00005
NM_181703.4(GJA5):c.1068A>G (p.Leu356=)	rs886045250	0.00004
NM_181703.4(GJA5):c.317G>T (p.Arg106Leu)	rs367924086	0.00004
NM_181703.4(GJA5):c.377C>T (p.Pro126Leu)	rs782780433	0.00004
NM_181703.4(GJA5):c.974A>G (p.Asn325Ser)	rs145523099	0.00004
NM_181703.4(GJA5):c.1016G>A (p.Ser339Asn)	rs782195867	0.00002
NM_181703.4(GJA5):c.325C>T (p.Arg109Trp)	rs782392307	0.00002
NM_181703.4(GJA5):c.358T>C (p.Ser120Pro)	rs782642890	0.00002
NM_181703.4(GJA5):c.370G>C (p.Glu124Gln)	rs782428701	0.00002
NM_181703.4(GJA5):c.413A>C (p.Glu138Ala)	rs782730854	0.00002
NM_181703.4(GJA5):c.496G>A (p.Gly166Ser)	rs782065420	0.00002
NM_181703.4(GJA5):c.994C>T (p.Arg332Cys)	rs782175029	0.00002
NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser)	rs782650035	0.00001
NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter)	rs782278675	0.00001
NM_181703.4(GJA5):c.1028G>A (p.Arg343His)	rs782627991	0.00001
NM_181703.4(GJA5):c.170T>G (p.Ile57Ser)	rs1553227077	0.00001
NM_181703.4(GJA5):c.316C>T (p.Arg106Cys)	rs1553227043	0.00001
NM_181703.4(GJA5):c.353G>A (p.Arg118Gln)	rs782580208	0.00001
NM_181703.4(GJA5):c.359C>G (p.Ser120Cys)	rs1553227023	0.00001
NM_181703.4(GJA5):c.369_370del (p.Tyr123_Glu124delinsTer)	rs782626477	0.00001
NM_181703.4(GJA5):c.430G>A (p.Ala144Thr)	rs782438073	0.00001
NM_181703.4(GJA5):c.478C>T (p.Arg160Cys)	rs368383054	0.00001
NM_181703.4(GJA5):c.542C>T (p.Thr181Ile)	rs1553226954	0.00001
NM_181703.4(GJA5):c.893C>G (p.Thr298Ser)	rs1454021397	0.00001
NM_181703.4(GJA5):c.953G>T (p.Gly318Val)	rs782221270	0.00001
NM_181703.4(GJA5):c.977G>C (p.Gly326Ala)	rs782703462	0.00001
NC_000001.10:g.(?_147230250)_(147231366_?)dup
NC_000001.10:g.(?_147230260)_(147245383_?)del
NC_000001.10:g.(?_147230260)_(147245383_?)dup
NC_000001.10:g.(?_147230270)_(147231346_?)dup
NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr)
NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu)
NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn)
NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile)
NM_181703.4(GJA5):c.1034G>A (p.Ser345Asn)
NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs)	rs781887233
NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro)
NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn)
NM_181703.4(GJA5):c.1065C>A (p.Asp355Glu)
NM_181703.4(GJA5):c.148G>A (p.Ala50Thr)	rs782167622
NM_181703.4(GJA5):c.160T>C (p.Cys54Arg)
NM_181703.4(GJA5):c.176C>T (p.Pro59Leu)
NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr)	rs150906806
NM_181703.4(GJA5):c.203A>G (p.Gln68Arg)
NM_181703.4(GJA5):c.208T>C (p.Phe70Leu)
NM_181703.4(GJA5):c.223A>T (p.Ile75Phe)	rs587777304
NM_181703.4(GJA5):c.227G>A (p.Arg76His)	rs2148959382
NM_181703.4(GJA5):c.229T>C (p.Tyr77His)	rs1663877672
NM_181703.4(GJA5):c.23del (p.Gly8fs)
NM_181703.4(GJA5):c.248T>C (p.Ile83Thr)
NM_181703.4(GJA5):c.259A>T (p.Thr87Ser)	rs1557943770
NM_181703.4(GJA5):c.266C>G (p.Ser89Cys)
NM_181703.4(GJA5):c.269T>C (p.Leu90Pro)
NM_181703.4(GJA5):c.272T>C (p.Val91Ala)
NM_181703.4(GJA5):c.275A>C (p.Tyr92Ser)
NM_181703.4(GJA5):c.278T>C (p.Met93Thr)	rs1663872343
NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr)
NM_181703.4(GJA5):c.281del (p.Gly94fs)
NM_181703.4(GJA5):c.287C>A (p.Ala96Asp)
NM_181703.4(GJA5):c.287C>T (p.Ala96Val)
NM_181703.4(GJA5):c.299T>G (p.Val100Gly)
NM_181703.4(GJA5):c.302G>A (p.Arg101His)	rs782301284
NM_181703.4(GJA5):c.304A>C (p.Met102Leu)
NM_181703.4(GJA5):c.304A>T (p.Met102Leu)	rs1285920774
NM_181703.4(GJA5):c.317G>A (p.Arg106His)
NM_181703.4(GJA5):c.347A>C (p.Glu116Ala)	rs782546377
NM_181703.4(GJA5):c.352C>G (p.Arg118Gly)
NM_181703.4(GJA5):c.355G>T (p.Gly119Cys)	rs2148959258
NM_181703.4(GJA5):c.356G>A (p.Gly119Asp)	rs1663860097
NM_181703.4(GJA5):c.362G>A (p.Gly121Asp)	rs1413935876
NM_181703.4(GJA5):c.365C>G (p.Ser122Cys)	rs781831348
NM_181703.4(GJA5):c.377C>A (p.Pro126Gln)
NM_181703.4(GJA5):c.411G>T (p.Glu137Asp)	rs200288659
NM_181703.4(GJA5):c.415G>A (p.Gly139Arg)
NM_181703.4(GJA5):c.433C>A (p.Leu145Ile)	rs2148959187
NM_181703.4(GJA5):c.433del (p.Leu145fs)	rs781802553
NM_181703.4(GJA5):c.479G>A (p.Arg160His)
NM_181703.4(GJA5):c.479G>T (p.Arg160Leu)	rs782538185
NM_181703.4(GJA5):c.481A>G (p.Thr161Ala)	rs2148959150
NM_181703.4(GJA5):c.497G>C (p.Gly166Ala)
NM_181703.4(GJA5):c.497del (p.Gly166fs)
NM_181703.4(GJA5):c.4G>C (p.Gly2Arg)	rs2148959534
NM_181703.4(GJA5):c.516C>A (p.Tyr172Ter)
NM_181703.4(GJA5):c.521T>A (p.Ile174Asn)
NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter)	rs149441155
NM_181703.4(GJA5):c.526G>A (p.Gly176Arg)	rs2148959125
NM_181703.4(GJA5):c.533del (p.Phe178fs)
NM_181703.4(GJA5):c.550G>A (p.Val184Ile)
NM_181703.4(GJA5):c.551T>A (p.Val184Asp)	rs2148959108
NM_181703.4(GJA5):c.76C>T (p.Leu26Phe)
NM_181703.4(GJA5):c.860T>A (p.Met287Lys)
NM_181703.4(GJA5):c.863C>T (p.Ala288Val)
NM_181703.4(GJA5):c.904C>T (p.Arg302Ter)
NM_181703.4(GJA5):c.905G>A (p.Arg302Gln)	rs781925387
NM_181703.4(GJA5):c.908G>A (p.Gly303Asp)
NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)
NM_181703.4(GJA5):c.920C>T (p.Thr307Ile)	rs781992965
NM_181703.4(GJA5):c.923C>G (p.Pro308Arg)
NM_181703.4(GJA5):c.925G>A (p.Gly309Arg)
NM_181703.4(GJA5):c.926G>C (p.Gly309Ala)
NM_181703.4(GJA5):c.932G>C (p.Gly311Ala)
NM_181703.4(GJA5):c.941A>G (p.Gln314Arg)	rs1663823052
NM_181703.4(GJA5):c.942G>T (p.Gln314His)
NM_181703.4(GJA5):c.947G>A (p.Arg316His)	rs369631383
NM_181703.4(GJA5):c.947G>C (p.Arg316Pro)	rs369631383
NM_181703.4(GJA5):c.947G>T (p.Arg316Leu)
NM_181703.4(GJA5):c.977G>A (p.Gly326Glu)	rs782703462
NM_181703.4(GJA5):c.989G>C (p.Gly330Ala)

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