ClinVar Miner

List of variants reported as pathogenic for woolly hair-skin fragility syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Woolly hair-skin fragility syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)	rs397514040
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)	rs397516955

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