ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Illumina Clinical Services Laboratory,Illumina

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Total variants: 16
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NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1975-12dup rs35888674
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.2875-5del rs774840081
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.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_198904.4(GABRG2):c.-4del rs771282908
NM_198904.4(GABRG2):c.-4dup rs771282908

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