ClinVar Miner

List of variants reported as likely pathogenic for familial pityriasis rubra pilaris

Included ClinVar conditions (3):

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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_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)	rs11652075	0.39960
NM_001366385.1(CARD14):c.356T>C (p.Met119Thr)	rs1598639584
NM_001366385.1(CARD14):c.409GAG[1] (p.Glu138del)	rs1390003312

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