List of variants in gene PIEZO1 reported as uncertain significance for Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)	rs750027720	0.00009
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)	rs1027478327	0.00001
NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)
NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg)
NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu)	rs753642385
NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln)	rs753296407
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly)
NM_001142864.4(PIEZO1):c.7348_7359dup (p.Lys2453_Phe2454insValIleGlyLys)
NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His)	rs774268616

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