List of variants in gene KCNQ2 studied for Developmental and epileptic encephalopathy, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)	rs2080906453
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)	rs796052657
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)	rs2082232988
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer)	rs118192197
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)	rs2081188385

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