ClinVar Miner

List of variants studied for KCNQ2-related epileptic encephalopathy by OMIM

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP
KCNQ2, 10-BP DEL/1-BP INS, NT761
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val) rs397515420
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) rs74315392
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582

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