ClinVar Miner

List of variants in gene SCN1A studied for Inborn genetic diseases

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001165963.4(SCN1A):c.384-21T>A rs373168416 0.00026
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963 0.00016
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258 0.00014
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr) rs141950573 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.2811C>T (p.Phe937=) rs558678383 0.00010
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr) rs374501252 0.00009
NM_001165963.4(SCN1A):c.1624C>A (p.Arg542=) rs138877187 0.00008
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906 0.00006
NM_001165963.4(SCN1A):c.72T>C (p.Ala24=) rs922097254 0.00005
NM_001165963.4(SCN1A):c.132C>T (p.Asp44=) rs372758956 0.00004
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479 0.00004
NM_001165963.4(SCN1A):c.1770C>T (p.Phe590=) rs146520391 0.00004
NM_001165963.4(SCN1A):c.2590C>T (p.Leu864=) rs140035595 0.00004
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu) rs773681556 0.00004
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) rs886043534 0.00003
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343 0.00003
NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu) rs754661378 0.00003
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) rs748537030 0.00002
NM_001165963.4(SCN1A):c.1663-3T>C rs766418091 0.00001
NM_001165963.4(SCN1A):c.1678C>T (p.Arg560Cys) rs768764142 0.00001
NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys) rs750516202 0.00001
NM_001165963.4(SCN1A):c.18T>G (p.Leu6=) rs1553561004 0.00001
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu) rs767045134 0.00001
NM_001165963.4(SCN1A):c.2451G>C (p.Leu817=) rs1304400552 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001165963.4(SCN1A):c.2523G>A (p.Thr841=) rs1165918262 0.00001
NM_001165963.4(SCN1A):c.257A>G (p.Asn86Ser) rs1004366186 0.00001
NM_001165963.4(SCN1A):c.265-4A>G rs776470979 0.00001
NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met) rs368663649 0.00001
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) rs748816300 0.00001
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) rs970867558 0.00001
NM_001165963.4(SCN1A):c.1027G>C (p.Gly343Arg)
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_001165963.4(SCN1A):c.1029-2A>C
NM_001165963.4(SCN1A):c.1118T>A (p.Leu373Ter) rs1553547448
NM_001165963.4(SCN1A):c.1134_1147dup (p.Phe383Ter) rs1698001843
NM_001165963.4(SCN1A):c.1200_1202del (p.Met400del)
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr) rs1574234690
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.1694C>T (p.Ser565Leu)
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1876A>T (p.Ser626Cys) rs121917990
NM_001165963.4(SCN1A):c.1940G>C (p.Cys647Ser)
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg) rs1398374184
NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val) rs1697296215
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2177-4C>A
NM_001165963.4(SCN1A):c.2285A>T (p.Asn762Ile)
NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro) rs2105982276
NM_001165963.4(SCN1A):c.2481T>C (p.Tyr827=) rs1559205057
NM_001165963.4(SCN1A):c.2508C>A (p.Asp836Glu)
NM_001165963.4(SCN1A):c.2512_2514del (p.Phe838del)
NM_001165963.4(SCN1A):c.2580_2584del (p.Phe861fs)
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg) rs1559200901
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser) rs796052984
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) rs886041716
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2872dup (p.Asp958fs)
NM_001165963.4(SCN1A):c.2946+4T>G
NM_001165963.4(SCN1A):c.3030T>A (p.Asn1010Lys)
NM_001165963.4(SCN1A):c.344A>T (p.Asn115Ile)
NM_001165963.4(SCN1A):c.346C>T (p.Pro116Ser)
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.407G>C (p.Cys136Ser)
NM_001165963.4(SCN1A):c.474-2A>G
NM_001165963.4(SCN1A):c.655dup (p.Arg219fs)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.812del (p.Gly271fs) rs1553549717
NM_001165963.4(SCN1A):c.841C>A (p.Pro281Thr) rs1553549660
NM_001165963.4(SCN1A):c.85A>G (p.Ile29Val)
NM_001165963.4(SCN1A):c.89C>G (p.Ala30Gly)
NM_001165963.4(SCN1A):c.909A>G (p.Thr303=) rs1559237625
NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter) rs2105888495
NM_001165963.4(SCN1A):c.965-1G>A rs794726824

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