ClinVar Miner

Variants in gene PSAP with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573
NM_002778.4(PSAP):c.577-10T>C rs185892516
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649

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