ClinVar Miner

List of variants in gene HSALR1, PIEZO1 studied for dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.1196-48A>G rs4782410 0.99677
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85861
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) rs13333358 0.38670
NM_001142864.4(PIEZO1):c.2329+19G>A rs2306050 0.28823
NM_001142864.4(PIEZO1):c.635-8C>T rs11076706 0.20777
NM_001142864.4(PIEZO1):c.466-39C>T rs7185630 0.20717
NM_001142864.4(PIEZO1):c.1997+32C>T rs3214056 0.19512
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
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.2209C>A (p.Leu737Met) rs985377446 0.00004
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_001142864.2(PIEZO1):c.[1848+31C>G;2344G>A;2423G>A]
NM_001142864.4(PIEZO1):c.1020+14A>G rs956707579
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) rs902069811
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr) rs1597457977
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001142864.4(PIEZO1):c.3026A>T (p.Gln1009Leu)
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) rs1904821405
NM_001142864.4(PIEZO1):c.827C>T (p.Pro276Leu)
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643
NM_001142864.4(PIEZO1):c.849-5G>A rs1905373372

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