List of variants in gene KCNJ11 reported as likely pathogenic by Counsyl

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)	rs954727530	0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)	rs1371185696	0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)	rs780957825	0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)	rs74339576	0.00001
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)	rs1337406718
NM_000525.4(KCNJ11):c.290dup (p.His97fs)	rs1554901854
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)	rs1554901829
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)	rs587783669
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)	rs1554901718
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)	rs1554901690

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