ClinVar Miner

List of variants studied for Atrial fibrillation, familial, 11

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_181703.4(GJA5):c.-27T>C rs2232190 0.01635
NM_181703.4(GJA5):c.*22G>A rs201046055 0.00088
NM_005266.7(GJA5):c.-51G>C rs759091909 0.00064
NM_181703.4(GJA5):c.*508G>A rs587741640 0.00052
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187 0.00037
NM_181703.4(GJA5):c.13A>G (p.Ser5Gly) rs144069395 0.00025
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557 0.00020
NM_181703.4(GJA5):c.348G>A (p.Glu116=) rs150168016 0.00019
NM_005266.7(GJA5):c.-68C>T rs763234536 0.00011
NM_005266.7(GJA5):c.-108G>A rs782165709 0.00010
NM_181703.4(GJA5):c.*333C>G rs200310520 0.00007
NM_181703.4(GJA5):c.*60C>T rs886045248 0.00007
NM_181703.4(GJA5):c.1068A>G (p.Leu356=) rs886045250 0.00004
NM_181703.4(GJA5):c.377C>T (p.Pro126Leu) rs782780433 0.00004
NM_181703.4(GJA5):c.*520A>T rs886045246 0.00002
NM_181703.4(GJA5):c.342C>G (p.Ala114=) rs886045251 0.00002
NM_181703.4(GJA5):c.*498A>T rs1232691592 0.00001
NM_181703.4(GJA5):c.334G>C (p.Glu112Gln) rs886045252 0.00001
NM_181703.4(GJA5):c.353G>A (p.Arg118Gln) rs782580208 0.00001
NM_181703.4(GJA5):c.938T>C (p.Ile313Thr) rs782224153 0.00001
GRCh37/hg19 1q21.2(chr1:147245049-147246661)
NM_005266.7(GJA5):c.-125C>T rs1664486266
NM_181703.4(GJA5):c.*364C>T rs886045247
NM_181703.4(GJA5):c.*46T>C rs886045249
NM_181703.4(GJA5):c.*616T>C rs202133825
NM_181703.4(GJA5):c.1057T>G (p.Ser353Ala) rs1663814972
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.241C>T (p.Gln81Ter) rs1557943827
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
NM_181703.4(GJA5):c.744C>A (p.Cys248Ter) rs1557942871
NM_181703.4(GJA5):c.956A>T (p.Gln319Leu) rs1663821317

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