ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val) rs562675882 0.00008
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 0.00007
NM_000335.5(SCN5A):c.955G>A (p.Gly319Ser) rs199473090 0.00006
NM_000335.5(SCN5A):c.5212C>T (p.Arg1738Trp) rs199473303 0.00005
NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp) rs878859550 0.00002
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys) rs760531609 0.00001
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met) rs199473134 0.00001
NM_000335.5(SCN5A):c.193C>T (p.Pro65Ser) rs1202614416 0.00001
NM_000335.5(SCN5A):c.262A>G (p.Ser88Gly) rs779961972 0.00001
NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met) rs199473233 0.00001
NM_000335.5(SCN5A):c.6032G>A (p.Arg2011His) rs774244998 0.00001
NM_000335.5(SCN5A):c.1195C>A (p.Leu399Met) rs369253900
NM_000335.5(SCN5A):c.1403C>T (p.Pro468Leu)
NM_000335.5(SCN5A):c.2048G>A (p.Cys683Tyr)
NM_000335.5(SCN5A):c.3640A>T (p.Ile1214Phe)
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.5336A>G (p.Glu1779Gly) rs1352601386
NM_000335.5(SCN5A):c.544T>C (p.Cys182Arg) rs199473066
NM_000335.5(SCN5A):c.5795G>C (p.Gly1932Ala) rs758704113
NM_000335.5(SCN5A):c.5827_5830del (p.Glu1944fs) rs2061010663
NM_000335.5(SCN5A):c.6012_6014del (p.Pro2005del)
NM_001099404.2(SCN5A):c.697A>C (p.Ile233Leu)
NM_001099404.2(SCN5A):c.702A>T (p.Pro234=)

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