List of variants reported as likely pathogenic for dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val)	rs531972155	0.00038
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)	rs587776991	0.00004
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly)	rs1904552378	0.00001
NM_001142864.4(PIEZO1):c.136G>A (p.Gly46Ser)
NM_001142864.4(PIEZO1):c.157del (p.Gln53fs)
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)	rs1904821405
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)
NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro)

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