List of variants in gene KCNQ2 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 20q13.33(chr20:62055530-62065256)x3
NM_172107.4(KCNQ2):c.1020C>G (p.Ile340Met)	rs752073942
NM_172107.4(KCNQ2):c.1045A>G (p.Thr349Ala)	rs2145680256
NM_172107.4(KCNQ2):c.1078T>G (p.Trp360Gly)
NM_172107.4(KCNQ2):c.1368del (p.Ser457fs)	rs2145556956
NM_172107.4(KCNQ2):c.1632-11C>G
NM_172107.4(KCNQ2):c.1851del (p.Ser618fs)	rs1601548976
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)	rs118192185
NM_172107.4(KCNQ2):c.379T>G (p.Tyr127Asp)
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)	rs1600789325
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)	rs74315392
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)	rs1057516094
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg)	rs1064797284
NM_172107.4(KCNQ2):c.816+1G>A	rs1057519124
NM_172107.4(KCNQ2):c.854C>T (p.Pro285Leu)	rs1057516097
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly)	rs1057516103

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