List of variants in gene KCNH2 reported as pathogenic by Ambry Genetics

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: 108

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)	rs199472918	0.00006
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)	rs773724817	0.00003
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)	rs199472979	0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)	rs199472990	0.00001
NM_000238.4(KCNH2):c.100del (p.Ala34fs)	rs794728506
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter)	rs794728364
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)	rs1563161538
NM_000238.4(KCNH2):c.1142del (p.Gly381fs)	rs794728497
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu)	rs1554426244
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu)	rs199472900
NM_000238.4(KCNH2):c.1385dup (p.Met462fs)
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)	rs1584883377
NM_000238.4(KCNH2):c.1557+1G>A	rs886039043
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)	rs199472916
NM_000238.4(KCNH2):c.1620del (p.Arg541fs)	rs1554425955
NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter)	rs1554430962
NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs)
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)	rs199472921
NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro)	rs199472921
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	rs121912504
NM_000238.4(KCNH2):c.1704G>A (p.Trp568Ter)	rs199472926
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)	rs9333649
NM_000238.4(KCNH2):c.1742del (p.Ser581fs)
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)	rs121912508
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	rs199472936
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)	rs199473522
NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly)	rs199472940
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	rs199473524
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)	rs199472944
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)	rs199472947
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)	rs121912507
NM_000238.4(KCNH2):c.1888del (p.Val630fs)	rs1554425724
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)	rs199472961
NM_000238.4(KCNH2):c.1946-2A>C	rs794728488
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
NM_000238.4(KCNH2):c.205_271del (p.Leu69fs)
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)	rs1064794793
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)	rs199473421
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)	rs189014161
NM_000238.4(KCNH2):c.2236del (p.Ala746fs)	rs1554425277
NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs)
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs)	rs886039045
NM_000238.4(KCNH2):c.2376dup (p.Asp793fs)
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs)	rs1554424849
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)	rs121912510
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)	rs121912506
NM_000238.4(KCNH2):c.2494A>T (p.Lys832Ter)	rs794728393
NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter)
NM_000238.4(KCNH2):c.2567dup (p.Glu857fs)
NM_000238.4(KCNH2):c.2647del (p.Arg883fs)
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)	rs1385959174
NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs)	rs1554424620
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)	rs1800975855
NM_000238.4(KCNH2):c.2705del (p.Pro902fs)	rs1563148264
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)	rs794728449
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs)	rs794728502
NM_000238.4(KCNH2):c.2734_2738dup (p.Ala915fs)	rs794728502
NM_000238.4(KCNH2):c.2734dup (p.Arg912fs)
NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs)
NM_000238.4(KCNH2):c.2762del (p.Gly921fs)	rs1584845263
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs)	rs1554424390
NM_000238.4(KCNH2):c.2766del (p.Pro923fs)	rs1554424403
NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs)	rs2116933379
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)	rs794728455
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)	rs794728458
NM_000238.4(KCNH2):c.2857dup (p.Leu953fs)
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)	rs794728462
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs)
NM_000238.4(KCNH2):c.2918del (p.Leu973fs)	rs1800958758
NM_000238.4(KCNH2):c.2927del (p.Asp976fs)
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)	rs748706373
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)	rs794728401
NM_000238.4(KCNH2):c.307_307+1delinsTT	rs1554430850
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)	rs1554424091
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs)	rs1554424070
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs)	rs1554424083
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)	rs1800940404
NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs)
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)	rs864622309
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)	rs794728467
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs)	rs794728466
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)	rs1800937691
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)	rs794728469
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs)	rs794728469
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)	rs1584843033
NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter)
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)	rs1554423871
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs)	rs1584841841
NM_000238.4(KCNH2):c.3330+1G>A	rs1368439403
NM_000238.4(KCNH2):c.397del (p.Met133fs)
NM_000238.4(KCNH2):c.422dup (p.Ala142fs)	rs2117011733
NM_000238.4(KCNH2):c.453del (p.Thr152fs)	rs761863251
NM_000238.4(KCNH2):c.453dup (p.Thr152fs)	rs761863251
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
NM_000238.4(KCNH2):c.464_467del (p.Leu155fs)
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)	rs1057517742
NM_000238.4(KCNH2):c.557dup (p.Gly187fs)
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs)	rs794728420
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)	rs730880116
NM_000238.4(KCNH2):c.735dup (p.Gly246fs)
NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter)	rs794728360
NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs)	rs1554427697
NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs)	rs1554427692
NM_000238.4(KCNH2):c.892_904del (p.Pro298fs)
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs)	rs1554427596

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