ClinVar Miner

List of variants reported as pathogenic for Familial acne inversa 1

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Total variants: 5
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NM_015331.3(NCSTN):c.1101+1G>A rs1347055289
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

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