List of variants in gene KCNQ2 reported as pathogenic by Eurofins NTD LLC (GA)

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.102del (p.Thr35fs)	rs1568986619
NM_172107.4(KCNQ2):c.1118+2T>C	rs886042605
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)	rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)	rs118192226
NM_172107.4(KCNQ2):c.144del (p.Lys49fs)	rs1555881809
NM_172107.4(KCNQ2):c.1820del (p.Gly607fs)	rs1555851513
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)	rs118192203
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)	rs727503974

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