ClinVar Miner

List of variants in gene combination HSALR1, PIEZO1 reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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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.555C>T (p.Ala185=) rs115481622 0.01551
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.1297-59_1298del
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643

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