ClinVar Miner

Variants in gene WDR62 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs) rs747870811

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