List of variants in gene KCNJ2 reported as pathogenic for heart conduction disease

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)	rs199473378	0.00001
NC_000017.10:g.(?_68166871)_(68171602_?)del
NM_000891.3(KCNJ2):c.-217+1029_422del
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs)	rs1567823248
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)	rs786205811
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	rs104894580
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)	rs104894575
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)	rs104894585
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)	rs104894585
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)	rs199473372
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	rs199473653
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)	rs199473377
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)	rs199473377
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)	rs199473654
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)	rs104894584
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)	rs199473655
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)	rs199473383
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	rs199473384
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)	rs1060500053
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)	rs1555603974
NM_000891.3(KCNJ2):c.721del (p.Glu241fs)	rs2074388917
NM_000891.3(KCNJ2):c.896A>T (p.Glu299Val)	rs786205817
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)	rs104894579
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)	rs104894579
NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys)
NM_000891.3(KCNJ2):c.902T>G (p.Met301Arg)	rs876661184
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)	rs1555603994
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)	rs199473388
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820

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