ClinVar Miner

List of variants in gene GJA5 studied for atrial fibrillation, familial, 11

Included ClinVar conditions (3):
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Total variants: 79
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HGVS dbSNP
GRCh37/hg19 1q21.2(chr1:147245049-147246661)
NC_000001.10:g.(?_147230250)_(147231366_?)dup
NC_000001.10:g.(?_147230260)_(147245383_?)del
NC_000001.10:g.(?_147230260)_(147245383_?)dup
NM_005266.6(GJA5):c.-108G>A rs782165709
NM_005266.6(GJA5):c.-125C>T
NM_005266.6(GJA5):c.-51G>C rs759091909
NM_005266.6(GJA5):c.-61A>G rs11552588
NM_005266.6(GJA5):c.-68C>T rs763234536
NM_005266.7(GJA5):c.-33-1361=
NM_181703.4(GJA5):c.*22G>A
NM_181703.4(GJA5):c.*333C>G
NM_181703.4(GJA5):c.*364C>T rs886045247
NM_181703.4(GJA5):c.*46T>C rs886045249
NM_181703.4(GJA5):c.*498A>T
NM_181703.4(GJA5):c.*508G>A rs587741640
NM_181703.4(GJA5):c.*520A>T rs886045246
NM_181703.4(GJA5):c.*60C>T rs886045248
NM_181703.4(GJA5):c.*616T>C rs202133825
NM_181703.4(GJA5):c.-27T>C rs2232190
NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser)
NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter)
NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs)
NM_181703.4(GJA5):c.1057T>G (p.Ser353Ala)
NM_181703.4(GJA5):c.1068A>G (p.Leu356=) rs886045250
NM_181703.4(GJA5):c.111G>A (p.Leu37=)
NM_181703.4(GJA5):c.117A>G (p.Thr39=)
NM_181703.4(GJA5):c.13A>G (p.Ser5Gly) rs144069395
NM_181703.4(GJA5):c.145C>T (p.Gln49Ter) rs387906612
NM_181703.4(GJA5):c.147G>A (p.Gln49=)
NM_181703.4(GJA5):c.148G>A (p.Ala50Thr) rs782167622
NM_181703.4(GJA5):c.170T>G (p.Ile57Ser)
NM_181703.4(GJA5):c.199G>A (p.Asp67Asn)
NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr) rs150906806
NM_181703.4(GJA5):c.223A>T (p.Ile75Phe) rs587777304
NM_181703.4(GJA5):c.241C>T (p.Gln81Ter) rs1557943827
NM_181703.4(GJA5):c.253G>A (p.Val85Ile) rs387906613
NM_181703.4(GJA5):c.259A>T (p.Thr87Ser) rs1557943770
NM_181703.4(GJA5):c.278T>C (p.Met93Thr)
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557
NM_181703.4(GJA5):c.297T>G (p.Thr99=)
NM_181703.4(GJA5):c.325C>T (p.Arg109Trp) rs782392307
NM_181703.4(GJA5):c.327G>A (p.Arg109=)
NM_181703.4(GJA5):c.334G>C (p.Glu112Gln) rs886045252
NM_181703.4(GJA5):c.342C>G (p.Ala114=) rs886045251
NM_181703.4(GJA5):c.348G>A (p.Glu116=)
NM_181703.4(GJA5):c.353G>A (p.Arg118Gln) rs782580208
NM_181703.4(GJA5):c.358T>C (p.Ser120Pro)
NM_181703.4(GJA5):c.365C>T (p.Ser122Phe) rs781831348
NM_181703.4(GJA5):c.369C>T (p.Tyr123=) rs2232191
NM_181703.4(GJA5):c.377C>T (p.Pro126Leu)
NM_181703.4(GJA5):c.411G>T (p.Glu137Asp) rs200288659
NM_181703.4(GJA5):c.430G>A (p.Ala144Thr) rs782438073
NM_181703.4(GJA5):c.433del (p.Leu145fs) rs781802553
NM_181703.4(GJA5):c.472C>T (p.Leu158=)
NM_181703.4(GJA5):c.478C>T (p.Arg160Cys)
NM_181703.4(GJA5):c.479G>T (p.Arg160Leu)
NM_181703.4(GJA5):c.496G>A (p.Gly166Ser) rs782065420
NM_181703.4(GJA5):c.513G>A (p.Gln171=) rs1571066735
NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter)
NM_181703.4(GJA5):c.544C>T (p.Leu182=)
NM_181703.4(GJA5):c.592G>A (p.Val198Ile)
NM_181703.4(GJA5):c.661C>A (p.Leu221Ile) rs387906614
NM_181703.4(GJA5):c.685C>A (p.Leu229Met) rs387906615
NM_181703.4(GJA5):c.726G>A (p.Arg242=) rs150432230
NM_181703.4(GJA5):c.744C>A (p.Cys248Ter) rs1557942871
NM_181703.4(GJA5):c.771dup (p.Val258fs)
NM_181703.4(GJA5):c.787C>T (p.Pro263Ser)
NM_181703.4(GJA5):c.790C>A (p.Pro264Thr)
NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) rs148311482
NM_181703.4(GJA5):c.864C>T (p.Ala288=)
NM_181703.4(GJA5):c.903A>G (p.Val301=)
NM_181703.4(GJA5):c.938T>C (p.Ile313Thr)
NM_181703.4(GJA5):c.941A>G (p.Gln314Arg)
NM_181703.4(GJA5):c.947G>A (p.Arg316His)
NM_181703.4(GJA5):c.956A>T (p.Gln319Leu)
NM_181703.4(GJA5):c.973A>C (p.Asn325His) rs782592443
NM_181703.4(GJA5):c.977G>A (p.Gly326Glu) rs782703462
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187

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