ClinVar Miner

Variants in gene KCNQ1 with conflicting interpretations "risk factor" and "likely pathogenic"

Submission 1 (risk factor) minimum review status: Submission 1 (risk factor) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002

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