ClinVar Miner

List of variants reported as pathogenic for apocrine sweat gland disorder by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (5):

Acne inversa, familial, 1
Acne inversa, familial, 2
Acne inversa, familial, 3
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)	rs387906896

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