List of variants in gene KCNQ2 reported by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)	rs118192236	0.00001
NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val)	rs1057516106
NM_172107.4(KCNQ2):c.144dup (p.Lys49fs)	rs1555881809
NM_172107.4(KCNQ2):c.1681C>T (p.Pro561Ser)	rs2145542063
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)	rs1555850842
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)	rs1555873985
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)	rs886041262
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val)	rs118192205
NM_172107.4(KCNQ2):c.830C>T (p.Thr277Ile)
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)	rs1060500602
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.920T>C (p.Leu307Pro)
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)	rs118192215

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