List of variants in gene NCSTN studied for acne inversa, familial, 1

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_015331.3(NCSTN):c.1101+13T>C	rs41266885	0.00907
NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr)	rs143039637	0.00277
NM_015331.3(NCSTN):c.996+7G>A	rs202046846	0.00044
NM_015331.3(NCSTN):c.437-12C>G	rs201416838	0.00019
NM_015331.3(NCSTN):c.1101+1G>A	rs1347055289
NM_015331.3(NCSTN):c.1101_1101+17delinsTGTCCA
NM_015331.3(NCSTN):c.1179+6C>G
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.278dup (p.Tyr94fs)
NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)	rs387906896
NM_015331.3(NCSTN):c.944C>T (p.Ala315Val)	rs1553210405
NM_015331.3(NCSTN):c.97G>A (p.Gly33Arg)	rs2101889658

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