ClinVar Miner

List of variants studied for Brugada syndrome 1; Long QT syndrome 3

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01093
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00346
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00064
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp) rs3918389 0.00005
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn) rs759374610 0.00005
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile) rs778230530 0.00003
NM_000335.5(SCN5A):c.1939G>T (p.Ala647Ser) rs753232371 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr) rs1481582794 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) rs1553607597
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.3388-1G>C rs2125864009
NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile) rs1057523393
NM_000335.5(SCN5A):c.4553G>A (p.Gly1518Asp) rs1322825102
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter) rs1435536418

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