ClinVar Miner

List of variants in gene PIEZO1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00001
NM_001142864.4(PIEZO1):c.3277_3278delinsA (p.Ala1093fs)
NM_001142864.4(PIEZO1):c.344del (p.Ile115fs)
NM_001142864.4(PIEZO1):c.3943C>T (p.Gln1315Ter) rs1290594550
NM_001142864.4(PIEZO1):c.4991del (p.Leu1664fs) rs2142767074
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter) rs749976222
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001142864.4(PIEZO1):c.5395C>T (p.Gln1799Ter)
NM_001142864.4(PIEZO1):c.5718dup (p.Thr1907fs)
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6067C>G (p.Leu2023Val)
NM_001142864.4(PIEZO1):c.6132G>A (p.Trp2044Ter)
NM_001142864.4(PIEZO1):c.6262C>G (p.Arg2088Gly) rs745674960
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
NM_001142864.4(PIEZO1):c.7463G>A (p.Arg2488Gln)
NM_001142864.4(PIEZO1):c.7493_7497dup (p.Tyr2500fs) rs1555551738

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