ClinVar Miner

List of variants in gene SCN8A reported as benign by Invitae

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001330260.2(SCN8A):c.3490+20G>A rs303808 0.76481
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001330260.2(SCN8A):c.4795+1141G>A rs671255 0.62236
NM_001330260.2(SCN8A):c.4281+13A>G rs9943809 0.08096
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01369
NM_001330260.2(SCN8A):c.4795+11T>C rs143139673 0.01136
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.4281+18G>A rs368432695 0.00087
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00051
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399 0.00051
NM_001330260.2(SCN8A):c.3321C>T (p.Asn1107=) rs374213514 0.00050
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001330260.2(SCN8A):c.1998+15G>T rs375797844 0.00048
NM_001330260.2(SCN8A):c.4543G>A (p.Val1515Ile) rs184568764 0.00048
NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=) rs372388512 0.00045
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001330260.2(SCN8A):c.707-15A>T rs149586118 0.00032
NM_001330260.2(SCN8A):c.4969C>T (p.Leu1657=) rs374755275 0.00023
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001330260.2(SCN8A):c.2394G>A (p.Ala798=) rs201392695 0.00014
NM_001330260.2(SCN8A):c.3373-9C>T rs770747359 0.00012
NM_001330260.2(SCN8A):c.855C>T (p.Pro285=) rs200784857 0.00007
NM_001330260.2(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765 0.00006
NM_001330260.2(SCN8A):c.615-144C>T rs192982781 0.00006
NM_001330260.2(SCN8A):c.1897C>G (p.Leu633Val) rs751275472 0.00003
NM_001330260.2(SCN8A):c.2056G>A (p.Asp686Asn) rs373073046 0.00003
NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp) rs370141803 0.00003
NM_001330260.2(SCN8A):c.3645+14G>C rs202031360 0.00003
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=) rs764790057 0.00003
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471 0.00003
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001330260.2(SCN8A):c.2118T>C (p.Asn706=) rs555404940 0.00002
NM_001330260.2(SCN8A):c.2902-9C>T rs773347806 0.00002
NM_001330260.2(SCN8A):c.3150T>G (p.Gly1050=) rs552307188 0.00001
NM_001330260.2(SCN8A):c.485+17T>C rs748436294 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.888C>G (p.Gly296=) rs565852557 0.00001
NM_001330260.2(SCN8A):c.1635+17dup rs756694666
NM_001330260.2(SCN8A):c.1636-16del rs754973942
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala) rs1429377869
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.1999-5dup rs769940455
NM_001330260.2(SCN8A):c.2131+7G>T rs756286753
NM_001330260.2(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2545-8_2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_001330260.2(SCN8A):c.3384C>A (p.Asp1128Glu) rs1444975127
NM_001330260.2(SCN8A):c.4419+15dup
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953

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