ClinVar Miner

List of variants reported as pathogenic for acne inversa, familial, 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_172341.3(PSENEN):c.66del rs1555738837
NM_172341.3(PSENEN):c.66dup rs1555738837
NM_172341.4(PSENEN):c.167-2A>G rs1555738903
NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg) rs1555738906
NM_172341.4(PSENEN):c.279del (p.Phe94fs) rs1555738943
NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter) rs1555738763
NM_172341.4(PSENEN):c.62-1G>C rs1555738836

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