ClinVar Miner

List of variants studied for Uncombable hair syndrome 1

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Total variants: 4
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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
NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr) rs144944758 0.00060
NM_016233.2(PADI3):c.[335T>A];[881C>T]

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