ClinVar Miner

List of variants in gene combination HSALR1, PIEZO1 reported as likely pathogenic for dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)	rs1904821405

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