ClinVar Miner

Variants in gene combination KCNQ1, KCNQ1OT1 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) rs1205552952 0.00015
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000218.3(KCNQ1):c.1394-6C>A rs759714698
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379

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