ClinVar Miner

List of variants reported as pathogenic for Uncombable hair syndrome 1 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	rs144080386	0.00620
NM_016233.2(PADI3):c.335T>A (p.Leu112His)	rs142129409	0.00502

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