ClinVar Miner

List of variants reported as pathogenic for atrial fibrillation (disease)

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
GRCh37/hg19 1q21.2(chr1:147245049-147246661)
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000335.4(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_000335.4(SCN5A):c.1333C>G (p.His445Asp) rs199473112
NM_000335.4(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115
NM_000335.4(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579
NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_000335.4(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618
NM_000335.4(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) rs147750704
NM_001002841.1(MYL4):c.31G>A (p.Glu11Lys) rs886037778
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001099404.1(SCN5A):c.615T>G (p.Tyr205Ter)
NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter) rs121908590
NM_002234.4(KCNA5):c.143A>G (p.Glu48Gly) rs587777336
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592
NM_002234.4(KCNA5):c.1828G>A (p.Glu610Lys) rs121908593
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819
NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln) rs72544145
NM_005266.6(GJA5):c.145C>T (p.Gln49Ter) rs387906612
NM_005266.6(GJA5):c.223A>T (p.Ile75Phe) rs587777304
NM_005266.6(GJA5):c.253G>A (p.Val85Ile) rs387906613
NM_005266.6(GJA5):c.661C>A (p.Leu221Ile) rs387906614
NM_005266.6(GJA5):c.685C>A (p.Leu229Met) rs387906615
NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) rs761784169
NM_005691.3(ABCC9):c.4640C>T (p.Thr1547Ile) rs387906805
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261
NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?) rs587776851
NM_153485.3(NUP155):c.1172G>A (p.Arg391His) rs587777339
NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) rs74315449
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) rs397508097
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) rs199472795
NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) rs199472705
NM_181798.1(KCNQ1):c.305G>A (p.Gly102Asp) rs199472708
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.37A>G (p.Ser13Gly) rs120074192
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458

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