ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as not provided for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) rs199473192 0.00021
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn) rs199473195 0.00005
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg) rs199473641 0.00002
NM_000335.5(SCN5A):c.2878C>A (p.Gln960Lys) rs199473590 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.3233C>T (p.Ser1078Phe) rs199473188 0.00001
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val) rs199473194 0.00001
NM_000335.5(SCN5A):c.2804T>C (p.Leu935Pro) rs199473179
NM_000335.5(SCN5A):c.2894G>A (p.Arg965His) rs199473181
NM_000335.5(SCN5A):c.2894G>T (p.Arg965Leu) rs199473181
NM_000335.5(SCN5A):c.2942G>T (p.Cys981Phe) rs199473591
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3022C>T (p.Pro1008Ser) rs199473184
NM_000335.5(SCN5A):c.3164A>G (p.Asp1055Gly) rs199473593
NM_000335.5(SCN5A):c.3233C>A (p.Ser1078Tyr) rs199473188

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