ClinVar Miner

List of variants studied for acne inversa, familial, 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_172341.3(PSENEN):c.66del (p.Phe23Leufs) rs1555738837
NM_172341.3(PSENEN):c.66dup (p.Phe23Valfs) 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.61+17G>C rs10402601
NM_172341.4(PSENEN):c.62-1G>C rs1555738836

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