List of variants in gene KCNQ2 reported as likely pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.1679G>A (p.Arg560Gln)	rs1057517919
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)	rs796052618
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)	rs2145774638
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro)	rs2081190512
NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro)	rs756921902

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