ClinVar Miner

List of variants in gene SCN8A reported by Baylor Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=) rs1941787074
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr) rs1942973895
NM_001330260.2(SCN8A):c.3793T>C (p.Cys1265Arg) rs1942975434
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg) rs1555228771
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg) rs1938713472
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser) rs1941432230
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala) rs368796221
NM_001330260.2(SCN8A):c.614+1G>A rs1941433358
NM_001330260.2(SCN8A):c.676C>G (p.Arg226Gly) rs1323578421
NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly) rs879255696
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699

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