ClinVar Miner

List of variants in gene POP1 reported as pathogenic for anauxetic dysplasia 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_001145860.2(POP1):c.1748G>A (p.Gly583Glu) rs374828868 0.00001
NM_001145860.2(POP1):c.1531G>T (p.Asp511Tyr) rs1060505025
NM_001145860.2(POP1):c.1573C>T (p.Pro525Ser) rs769183311
NM_001145860.2(POP1):c.1744C>T (p.Pro582Ser) rs1060505023
NM_001145860.2(POP1):c.2607del (p.Glu870fs) rs1060505024

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