ClinVar Miner

List of variants in gene SCN8A reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 19
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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.4281+13A>G rs9943809 0.08096
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.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001330260.2(SCN8A):c.2109T>C (p.Val703=) rs369029348 0.00033
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.2586C>T (p.Asn862=) rs377396450 0.00014
NM_001330260.2(SCN8A):c.5046C>T (p.Ile1682=) rs376759643 0.00011
NM_001330260.2(SCN8A):c.4962C>T (p.Ile1654=) rs766702527 0.00004
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg) rs1410900258 0.00004
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=) rs764790057 0.00003
NM_001330260.2(SCN8A):c.4378A>G (p.Ile1460Val) rs2138909633
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637

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