ClinVar Miner

Variants in gene KCNH1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.1911T>C (p.Ile637=) rs111629488 0.00446
NM_172362.3(KCNH1):c.1463-14C>G rs115279651 0.00329
NM_172362.3(KCNH1):c.2604G>A (p.Ala868=) rs1135318 0.00217
NM_172362.3(KCNH1):c.2455T>A (p.Ser819Thr) rs139659266 0.00174
NM_172362.3(KCNH1):c.2823C>T (p.Asn941=) rs143091808 0.00080
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro) rs140939826 0.00058
NM_172362.3(KCNH1):c.79_79+3dup rs777147129 0.00053
NM_172362.3(KCNH1):c.2532C>T (p.Cys844=) rs200699122 0.00024
NM_172362.3(KCNH1):c.282C>T (p.Ser94=) rs138645753 0.00024
NM_172362.3(KCNH1):c.2661C>T (p.Ser887=) rs147411779 0.00023
NM_172362.3(KCNH1):c.2327C>G (p.Ala776Gly) rs138931464 0.00020
NM_172362.3(KCNH1):c.2276G>A (p.Arg759Gln) rs141905481 0.00019
NM_172362.3(KCNH1):c.251G>A (p.Arg84Gln) rs370185149 0.00009
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr) rs140043333 0.00008
NM_172362.3(KCNH1):c.2372G>A (p.Arg791His) rs139318016 0.00008
NM_172362.3(KCNH1):c.1740G>A (p.Pro580=) rs145789974 0.00005
NM_172362.3(KCNH1):c.2434G>A (p.Ala812Thr) rs759775665 0.00005
NM_172362.3(KCNH1):c.882G>A (p.Thr294=) rs147778651 0.00004
NM_172362.3(KCNH1):c.1311A>G (p.Ser437=) rs569479235
NM_172362.3(KCNH1):c.1797G>A (p.Thr599=) rs147586251
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser) rs371262198
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_172362.3(KCNH1):c.80-7_80-6del rs56223346

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