ClinVar Miner

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

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Total variants: 93
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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.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=) rs371686822 0.00008
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.3336C>T (p.Ala1112=) rs373679015 0.00006
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.3204C>T (p.Gly1068=) rs1464663200 0.00004
NM_000335.5(SCN5A):c.2788-10A>T rs181089316 0.00003
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.3111C>A (p.Gly1037=) rs1057521031 0.00003
NM_000335.5(SCN5A):c.3156C>T (p.Ala1052=) rs748975536 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=) rs544057915 0.00002
NM_000335.5(SCN5A):c.2931C>G (p.Thr977=) rs780713625 0.00002
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.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.2788-5G>A rs200430037 0.00001
NM_000335.5(SCN5A):c.2793G>A (p.Leu931=) rs2065689680 0.00001
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.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.3081G>A (p.Arg1027=) rs878967241 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.3229-10T>C rs930323550 0.00001
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=) rs727504924 0.00001
NM_000335.5(SCN5A):c.3267G>A (p.Pro1089=) rs752999955 0.00001
NM_000335.5(SCN5A):c.3274A>C (p.Arg1092=) rs1485873066 0.00001
NM_000335.5(SCN5A):c.2788-8C>T rs2125872001
NM_000335.5(SCN5A):c.2805G>C (p.Leu935=)
NM_000335.5(SCN5A):c.2820C>T (p.Ser940=) rs1418607202
NM_000335.5(SCN5A):c.2829T>C (p.Ser943=) rs2125871881
NM_000335.5(SCN5A):c.2835C>T (p.Asp945=) rs2061581068
NM_000335.5(SCN5A):c.2841C>T (p.Leu947=) rs2061580908
NM_000335.5(SCN5A):c.2847C>G (p.Ala949=) rs199849056
NM_000335.5(SCN5A):c.2847C>T (p.Ala949=)
NM_000335.5(SCN5A):c.2904G>A (p.Arg968=) rs933264853
NM_000335.5(SCN5A):c.2923C>A (p.Arg975=)
NM_000335.5(SCN5A):c.2925G>C (p.Arg975=) rs878983121
NM_000335.5(SCN5A):c.2955G>A (p.Leu985=)
NM_000335.5(SCN5A):c.2994G>A (p.Gln998=) rs2061575904
NM_000335.5(SCN5A):c.3000G>A (p.Gln1000=) rs879148633
NM_000335.5(SCN5A):c.3012C>T (p.Cys1004=) rs1231333214
NM_000335.5(SCN5A):c.3030C>T (p.Ser1010=) rs2125871273
NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=) rs764425131
NM_000335.5(SCN5A):c.3033G>T (p.Pro1011=)
NM_000335.5(SCN5A):c.3042A>C (p.Pro1014=)
NM_000335.5(SCN5A):c.3072G>A (p.Lys1024=) rs1180847131
NM_000335.5(SCN5A):c.3081G>T (p.Arg1027=) rs878967241
NM_000335.5(SCN5A):c.3111C>T (p.Gly1037=) rs1057521031
NM_000335.5(SCN5A):c.3114C>T (p.Thr1038=) rs2125870963
NM_000335.5(SCN5A):c.3117C>A (p.Pro1039=) rs762151891
NM_000335.5(SCN5A):c.3117C>G (p.Pro1039=) rs762151891
NM_000335.5(SCN5A):c.3117C>T (p.Pro1039=) rs762151891
NM_000335.5(SCN5A):c.3120G>C (p.Gly1040=)
NM_000335.5(SCN5A):c.3159G>A (p.Glu1053=) rs775605367
NM_000335.5(SCN5A):c.3195C>T (p.Asn1065=) rs765371666
NM_000335.5(SCN5A):c.3198C>T (p.Ser1066=) rs1575760482
NM_000335.5(SCN5A):c.3210G>A (p.Glu1070=)
NM_000335.5(SCN5A):c.3213G>A (p.Glu1071=) rs531062263
NM_000335.5(SCN5A):c.3228+10C>A rs72549412
NM_000335.5(SCN5A):c.3228+14C>G
NM_000335.5(SCN5A):c.3228+17G>C
NM_000335.5(SCN5A):c.3228+19A>G
NM_000335.5(SCN5A):c.3229-11C>T
NM_000335.5(SCN5A):c.3229-14G>A
NM_000335.5(SCN5A):c.3229-17T>C
NM_000335.5(SCN5A):c.3229-20G>A
NM_000335.5(SCN5A):c.3246C>G (p.Ser1082=) rs111422496
NM_000335.5(SCN5A):c.3261C>A (p.Ala1087=)
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=) rs752999955
NM_000335.5(SCN5A):c.3294A>G (p.Ser1098=) rs2125867794
NM_000335.5(SCN5A):c.3303C>T (p.Ala1101=)
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706
NM_000335.5(SCN5A):c.3321C>A (p.Ala1107=)
NM_000335.5(SCN5A):c.3327A>C (p.Ala1109=) rs878916838
NM_000335.5(SCN5A):c.3372C>T (p.Ala1124=)
NM_000335.5(SCN5A):c.3387+10G>A
NM_000335.5(SCN5A):c.3387+15T>C
NM_000335.5(SCN5A):c.3387+20C>T
NM_000335.5(SCN5A):c.3387+8A>G rs2125867452

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