ClinVar Miner

List of variants in gene DSC3 studied for alopecia

Included ClinVar conditions (26):

Alopecia areata; Stereotypic movement disorder; Developmental regression; Incomprehensible speech; Alopecia
Alopecia universalis
Alopecia universalis congenita
Alopecia, androgenetic, 1
Atrichia with papular lesions
Brachydactyly; Alopecia areata; Pear-shaped nose; Proportionate short stature
Central centrifugal cicatricial alopecia
Epicanthus; Pectus excavatum; Telecanthus; Alopecia areata; Micrognathia; Abnormal facial shape; Abnormality of the outer ear; Osteoporosis; Coarse hair; Frontal upsweep of hair; Recurrent fractures
Hereditary hypotrichosis with recurrent skin vesicles
Hypotrichosis 1
Hypotrichosis 11
Hypotrichosis 12
Hypotrichosis 2
Hypotrichosis 2; Peeling skin syndrome 1
Hypotrichosis 3
Hypotrichosis 6
Hypotrichosis 7
Hypotrichosis 8
Hypotrichosis simplex
Lichen planopilaris
Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 1
Noonan syndrome-like disorder with loose anagen hair 2
Palmoplantar keratoderma; Alopecia; dyschromatosis; Ungual dystrophy; spino-cellular carcinoma
Pectus excavatum; Noonan syndrome-like disorder with loose anagen hair 1
Wooly hair, autosomal recessive 1, with or without hypotrichosis

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001941.5(DSC3):c.1123C>T (p.Arg375Ter)
NM_001941.5(DSC3):c.2129T>G (p.Leu710Ter)	rs137852782
NM_001941.5(DSC3):c.2180T>G (p.Leu727Ter)	rs2144681220

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