ClinVar Miner

List of variants reported as benign for Severe myoclonic epilepsy in infancy

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Total variants: 14
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NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1975-12dup rs35888674

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