ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance for Primary dilated cardiomyopathy

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys) rs368552426 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.5100G>T (p.Met1700Ile) rs769843988 0.00001
NM_000335.5(SCN5A):c.1300T>A (p.Phe434Ile)
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln) rs762858787
NM_000335.5(SCN5A):c.413T>C (p.Met138Thr) rs730880203
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.589G>T (p.Asp197Tyr) rs1553605667

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