ClinVar Miner

List of variants reported as likely pathogenic for dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema by Institute of Human Genetics, University Hospital of Duesseldorf

Included ClinVar conditions (2):

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6

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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: 1

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)

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