ClinVar Miner

List of variants in gene SCN1A reported as benign for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 40
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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.2947-41C>T rs7601520 0.73875
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.603-91G>A rs3812718 0.47979
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_001165963.4(SCN1A):c.2177-10C>T rs199507113 0.00579
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.1377+10C>T rs56112036 0.00248
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
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.1410C>T (p.Ser470=) rs142571794 0.00015
NM_001165963.4(SCN1A):c.1624C>A (p.Arg542=) rs138877187 0.00008
NM_001165963.4(SCN1A):c.69G>A (p.Ala23=) rs780729477 0.00005
NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr) rs766503699 0.00004
NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val) rs138357595 0.00003
NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn) rs550770894 0.00002
NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe) rs1396476288 0.00002
NM_001165963.4(SCN1A):c.1029-12C>T rs772513720 0.00001
NM_001165963.4(SCN1A):c.2044-20A>G rs777660738 0.00001
NM_001165963.4(SCN1A):c.558T>C (p.Leu186=) rs539168834 0.00001
NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp) rs1457806589 0.00001
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.1501A>C (p.Arg501=)
NM_001165963.4(SCN1A):c.1509A>G (p.Lys503=)
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) rs587781144
NM_001165963.4(SCN1A):c.1554T>G (p.Asp518Glu)
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2044-6_2044-5dup
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.264+13dup
NM_001165963.4(SCN1A):c.2947-4del
NM_001165963.4(SCN1A):c.474-17del
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288

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