List of variants in gene KCNJ11 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)	rs267607196	0.00003
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)	rs766891274	0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)	rs780957825	0.00001
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)	rs80356616
NM_000525.4(KCNJ11):c.331_332del (p.Val111fs)	rs2133380463
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)	rs557160758
NM_000525.4(KCNJ11):c.521C>G (p.Ala174Gly)	rs587783670
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)	rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)	rs80356624
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)	rs587783672
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys)	rs587783673
NM_000525.4(KCNJ11):c.8C>G (p.Ser3Cys)	rs587783674
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)	rs193929355
NM_000525.4(KCNJ11):c.988T>C (p.Tyr330His)	rs587783675
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)	rs193929356

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