List of variants in gene KCNH2 reported as likely pathogenic for long QT syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)	rs199473434	0.00005
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)	rs199473435	0.00004
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)	rs199472910	0.00003
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)	rs199472979	0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)	rs199473538	0.00001
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)	rs794728449	0.00001
NC_000007.14:g.150952854dup	rs2486051757
NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer)	rs2486051098
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)	rs199472897
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)	rs199472842
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)	rs1801182500
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)	rs121912508
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)	rs199472978
NM_000238.4(KCNH2):c.1983del (p.Ile662fs)	rs1584852351
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)	rs199472986
NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs)	rs1584846827
NM_000238.4(KCNH2):c.2692+1del	rs2486011704
NM_000238.4(KCNH2):c.2692+2_2692+4del	rs1308270290
NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs)	rs2486004826
NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs)	rs1554424138
NM_000238.4(KCNH2):c.893del (p.Pro298fs)	rs1563169382

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