ClinVar Miner

List of variants in gene LOC110121269, SCN5A studied for dilated cardiomyopathy 1E

Included ClinVar conditions (8):
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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
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.2963G>A (p.Arg988Gln) rs759584454 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg) rs199473186 0.00007
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00005
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr) rs376183542 0.00005
NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165 0.00004
NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp) rs768691853 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 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.2923C>T (p.Arg975Trp) rs41311135 0.00001
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp) rs1455337011 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.3233C>T (p.Ser1078Phe) rs199473188 0.00001
NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser) rs199473190 0.00001
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr) rs1481582794 0.00001
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val) rs199473194 0.00001
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.2889G>A (p.Leu963=) rs2061579328
NM_000335.5(SCN5A):c.2894G>T (p.Arg965Leu) rs199473181
NM_000335.5(SCN5A):c.2945G>A (p.Cys982Tyr) rs2061577593
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro) rs199473592
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3259G>T (p.Ala1087Ser) rs369704754
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) rs7626962
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706
NM_000335.5(SCN5A):c.3387+1G>A rs2061536765

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