List of variants in gene KCNQ2 reported as pathogenic by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)	rs794727134	0.00001
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.628C>T (p.Arg210Cys)	rs796052626
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys)	rs118192208

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