List of variants reported as pathogenic for hidradenitis by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NC_000019.10:g.35746423del	rs1555738837
NC_000019.10:g.35746423dup	rs1555738837
NM_000021.4(PSEN1):c.725del (p.Pro242fs)	rs1595035030
NM_015331.3(NCSTN):c.1101+1G>A	rs1347055289
NM_015331.3(NCSTN):c.1285C>T (p.Arg429Ter)	rs771414318
NM_015331.3(NCSTN):c.1551+1G>A	rs1553210984
NM_015331.3(NCSTN):c.1752del (p.Glu584fs)	rs1553211087
NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)	rs387906896
NM_015331.3(NCSTN):c.97G>A (p.Gly33Arg)	rs2101889658
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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