ClinVar Miner

List of variants in gene KCNQ2 studied for Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7

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Total variants: 16
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HGVS dbSNP
NM_172107.3(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642
NM_172107.3(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.3(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.3(KCNQ2):c.1888-3C>T rs772971971
NM_172107.3(KCNQ2):c.2030G>C (p.Arg677Pro)
NM_172107.3(KCNQ2):c.2102_2104delTCT (p.Phe701del) rs758334927
NM_172107.3(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609
NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.3(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707

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