ClinVar Miner

List of variants in gene KCNH2 reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=) rs189457419 0.00017
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=) rs374296728 0.00011
NM_000238.4(KCNH2):c.2145+9A>T rs371749379 0.00009
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) rs140366118 0.00006
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=) rs146309583 0.00006
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=) rs753149816 0.00005
NM_000238.4(KCNH2):c.1945+18C>T rs778276270 0.00004
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=) rs769972412
NM_000238.4(KCNH2):c.3331-9G>A rs754582515
NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=) rs2116917718
NM_000238.4(KCNH2):c.774C>T (p.Pro258=) rs1554427740

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