List of variants in gene KCNQ2 reported as likely pathogenic for Inborn genetic diseases

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: 12

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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.1742G>A (p.Arg581Gln)	rs118192235
NM_172107.4(KCNQ2):c.1962_1963del (p.Glu654fs)
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs)	rs1555850151
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)	rs1555873985
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe)	rs1568940442
NM_172107.4(KCNQ2):c.612G>C (p.Gln204His)	rs796052625
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)	rs797045638
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	rs587777219
NM_172107.4(KCNQ2):c.839A>G (p.Tyr280Cys)	rs1568927820
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly)	rs1555869758

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