ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as likely pathogenic

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NC_000003.11:g.(?_38616768)_(38651475_?)dup
NM_000335.5(SCN5A):c.2788-2del
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro) rs2061581608
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) rs137854605
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter) rs1553699766
NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter) rs2125871040
NM_000335.5(SCN5A):c.3184dup (p.Asp1062fs) rs1553699607
NM_000335.5(SCN5A):c.3228+1G>C
NM_000335.5(SCN5A):c.3244del (p.Ser1082fs) rs1064795784
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520
NM_000335.5(SCN5A):c.3387+1G>A rs2061536765
NM_001099404.2(SCN5A):c.3229-1G>A

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