List of variants in gene PSENEN studied for Acne inversa, familial, 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_172341.4(PSENEN):c.61+17G>C	rs10402601	0.13695
NC_000019.10:g.35746423del	rs1555738837
NC_000019.10:g.35746423dup	rs1555738837
NM_172341.4(PSENEN):c.167-2A>G	rs1555738903
NM_172341.4(PSENEN):c.185_200del (p.Val62fs)	rs2513422071
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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