ClinVar Miner

List of variants in gene HSALR1, PIEZO1 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 35
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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.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) rs568280615 0.00021
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter) rs934897228 0.00003
NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys) rs1021969177 0.00003
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu) rs1471934686 0.00002
NM_001142864.4(PIEZO1):c.640G>A (p.Ala214Thr) rs533369230 0.00001
NM_001142864.4(PIEZO1):c.1297-1G>A rs1905219617
NM_001142864.4(PIEZO1):c.1297-59_1298del
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.1669+1G>A rs869025600
NM_001142864.4(PIEZO1):c.2248G>T (p.Glu750Ter)
NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter) rs869025596
NM_001142864.4(PIEZO1):c.2486A>T (p.Glu829Val)
NM_001142864.4(PIEZO1):c.2559G>A (p.Met853Ile)
NM_001142864.4(PIEZO1):c.2578G>A (p.Val860Met)
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_001142864.4(PIEZO1):c.2664G>A (p.Glu888=)
NM_001142864.4(PIEZO1):c.2838C>A (p.Tyr946Ter)
NM_001142864.4(PIEZO1):c.3154C>T (p.Gln1052Ter)
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) rs1904821405
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643

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