ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as uncertain significance for Severe myoclonic epilepsy in infancy

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Total variants: 10
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NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579

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