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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)	rs587776991	0.00004
NM_001142864.2(PIEZO1):[c.3350C>T;c.6059C>T]
NM_001142864.2(PIEZO1):c.[1848+31C>G;2344G>A;2423G>A]
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr)	rs1597457977
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)	rs59446030
NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter)	rs759026521
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro)	rs587776990
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)	rs587776989
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg)	rs587776987
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)	rs587776988
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3])	rs587776992
NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro)	rs1969582489

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