List of variants reported as pathogenic for acne inversa, familial, 1

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015331.3(NCSTN):c.1101+1G>A	rs1347055289
NM_015331.3(NCSTN):c.1101_1101+17delinsTGTCCA
NM_015331.3(NCSTN):c.1285C>T (p.Arg429Ter)	rs771414318
NM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter)	rs1085307081
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

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