ClinVar Miner

List of variants in gene HSALR1, LOC130059751, PIEZO1 studied 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: 3
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) rs6500493 0.70789
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.1195+36dup rs66881450

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