ClinVar Miner

List of variants reported for Autosomal dominant epilepsy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.1259del (p.Ala420fs) rs2105862149
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.4339-12C>A rs776548109
NM_001165963.4(SCN1A):c.4467del (p.Lys1491fs) rs1559118914
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5233A>T (p.Lys1745Ter)
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.900T>A (p.Tyr300Ter)
NM_001165963.4(SCN1A):c.980dup (p.Glu328fs)

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