ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as likely benign by Ambry Genetics

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
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.3296C>T (p.Ala1099Val) rs199473192 0.00021
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=) rs371686822 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.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) rs41312407 0.00006
NM_000335.5(SCN5A):c.3336C>T (p.Ala1112=) rs373679015 0.00006
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val) rs751938579 0.00005
NM_000335.5(SCN5A):c.3057G>A (p.Val1019=) rs372395429 0.00004
NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=) rs867787484 0.00004
NM_000335.5(SCN5A):c.3003G>C (p.Leu1001=) rs758064769 0.00003
NM_000335.5(SCN5A):c.3033G>C (p.Pro1011=) rs764425131 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=) rs193922725 0.00002
NM_000335.5(SCN5A):c.3132C>T (p.Pro1044=) rs547709944 0.00002
NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=) rs1405503955 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.2826C>T (p.Phe942=) rs766950305 0.00001
NM_000335.5(SCN5A):c.2953C>T (p.Leu985=) rs374855182 0.00001
NM_000335.5(SCN5A):c.2970G>A (p.Gln990=) rs771130219 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.3006C>G (p.Pro1002=) rs1553699716 0.00001
NM_000335.5(SCN5A):c.3054G>A (p.Lys1018=) rs1240436658 0.00001
NM_000335.5(SCN5A):c.3168A>C (p.Thr1056=) rs45480800 0.00001
NM_000335.5(SCN5A):c.3192G>A (p.Glu1064=) rs886039126 0.00001
NM_000335.5(SCN5A):c.3267G>A (p.Pro1089=) rs752999955 0.00001
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr) rs1481582794 0.00001
NM_000335.5(SCN5A):c.2832A>G (p.Ala944=)
NM_000335.5(SCN5A):c.2841C>G (p.Leu947=)
NM_000335.5(SCN5A):c.2853T>C (p.Asp951=)
NM_000335.5(SCN5A):c.2871C>T (p.Asn957=)
NM_000335.5(SCN5A):c.2883G>T (p.Leu961=)
NM_000335.5(SCN5A):c.2952C>T (p.Leu984=)
NM_000335.5(SCN5A):c.3012C>T (p.Cys1004=) rs1231333214
NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=) rs764425131
NM_000335.5(SCN5A):c.3036A>T (p.Pro1012=)
NM_000335.5(SCN5A):c.3111C>T (p.Gly1037=) rs1057521031
NM_000335.5(SCN5A):c.3120G>C (p.Gly1040=)
NM_000335.5(SCN5A):c.3198C>T (p.Ser1066=) rs1575760482
NM_000335.5(SCN5A):c.3210G>A (p.Glu1070=)
NM_000335.5(SCN5A):c.3240T>C (p.Pro1080=) rs2125867954
NM_000335.5(SCN5A):c.3246C>G (p.Ser1082=) rs111422496
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706

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