ClinVar Miner

Variants in gene KCNH2 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 28
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
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.2860C>T (p.Arg954Cys) rs141401803 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) rs766379103 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) rs199472905
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln) rs1064793147
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) rs794728402
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.4(KCNH2):c.916+1G>A
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487

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