ClinVar Miner

Variants in gene PDE6B 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: 9
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln) rs751859807 0.00002
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.1010A>G (p.His337Arg) rs1736178477
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177

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