ClinVar Miner

List of variants reported as pathogenic for atrial fibrillation by OMIM

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557 0.00020
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) rs199473112 0.00011
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307 0.00007
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819 0.00007
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591 0.00005
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_002234.4(KCNA5):c.1828G>A (p.Glu610Lys) rs121908593 0.00003
NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln) rs72544145 0.00002
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val) rs587777556 0.00001
NM_002234.4(KCNA5):c.143A>G (p.Glu48Gly) rs587777336 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.418A>G (p.Ser140Gly) rs120074192
NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro) rs199472705
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) rs199472708
NM_001040151.2(SCN3B):c.17G>A (p.Arg6Lys) rs587777558
NM_001040151.2(SCN3B):c.482T>C (p.Met161Thr) rs587777557
NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter) rs121908590
NM_002476.2(MYL4):c.31G>A (p.Glu11Lys) rs886037778
NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?) rs587776851
NM_020297.4(ABCC9):c.4512+814C>T rs387906805
NM_153485.3(NUP155):c.1172G>A (p.Arg391His) rs587777339
NM_174934.4(SCN4B):c.485T>G (p.Val162Gly) rs587777559
NM_174934.4(SCN4B):c.496A>C (p.Ile166Leu) rs587777560
NM_181703.4(GJA5):c.145C>T (p.Gln49Ter) rs387906612
NM_181703.4(GJA5):c.223A>T (p.Ile75Phe) rs587777304
NM_181703.4(GJA5):c.253G>A (p.Val85Ile) rs387906613
NM_181703.4(GJA5):c.661C>A (p.Leu221Ile) rs387906614
NM_181703.4(GJA5):c.685C>A (p.Leu229Met) rs387906615

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