ClinVar Miner

List of variants reported as pathogenic for Prieto syndrome by OMIM

Included ClinVar conditions (1):

Prieto syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020922.5(WNK3):c.1089+1G>A
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)

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