ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
NM_001142864.4(PIEZO1):c.2664+7del rs556884023

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