ClinVar Miner

List of variants reported as uncertain significance for dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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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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.3107G>A (p.Arg1036His)	rs769506340	0.00003

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