ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP
NM_002778.4(PSAP):c.-28A>C rs375720661
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617
NM_002778.4(PSAP):c.1197C>T (p.His399=)
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1432-4A>G rs775086571
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900
NM_002778.4(PSAP):c.174+9C>T rs141133813
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678

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