ClinVar Miner

List of variants reported as pathogenic for acanthosis nigricans

Included ClinVar conditions (3):

Acanthosis nigricans
Acanthosis nigricans; Obesity; Brachydactyly; Skeletal dysplasia; Insulin resistance; Short stature; Self-injurious behavior; Renal hypoplasia; Abnormal facial shape; Abnormality of the dentition; Hepatic steatosis; Lumbar hyperlordosis; Hyperlipidemia; Short metacarpal; Intellectual disability, severe
Acanthosis nigricans; Obesity; Global developmental delay; Abnormality of skin pigmentation; Tapered finger; Deeply set eye; Macrotia; Abnormal facial shape; Anteverted nares; Macroorchidism; Abnormality of the dentition; Carious teeth; Gynecomastia; Hyperpigmentation of the skin; Long ear

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	rs1251713297	0.00001
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	rs1014959895

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