ClinVar Miner

List of variants in gene PIEZO1 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg) rs533910472 0.00057
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg) rs200506892 0.00036
NM_001142864.4(PIEZO1):c.5284C>T (p.Arg1762Cys) rs1184084921 0.00001
NM_001142864.4(PIEZO1):c.5668+3A>G rs1270154612 0.00001
NC_000016.9:g.(?_88788606)_(88792112_?)dup
NM_001142864.4(PIEZO1):c.130T>A (p.Phe44Ile)
NM_001142864.4(PIEZO1):c.3220G>A (p.Ala1074Thr)
NM_001142864.4(PIEZO1):c.3491G>C (p.Arg1164Pro)
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001142864.4(PIEZO1):c.4018C>T (p.Arg1340Cys)
NM_001142864.4(PIEZO1):c.4024A>T (p.Ile1342Leu)
NM_001142864.4(PIEZO1):c.4061T>G (p.Met1354Arg)
NM_001142864.4(PIEZO1):c.4117C>T (p.Arg1373Cys) rs980052704
NM_001142864.4(PIEZO1):c.4123_4140del (p.Gln1375_Pro1380del)
NM_001142864.4(PIEZO1):c.4148C>G (p.Pro1383Arg)
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) rs11281795
NM_001142864.4(PIEZO1):c.4426C>G (p.Gln1476Glu)
NM_001142864.4(PIEZO1):c.4496-3_4499dup
NM_001142864.4(PIEZO1):c.4776-15G>A
NM_001142864.4(PIEZO1):c.4776T>C (p.Ser1592=)
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys)
NM_001142864.4(PIEZO1):c.5679C>T (p.Asp1893=)
NM_001142864.4(PIEZO1):c.5691_5705del (p.Glu1898_Glu1902del)
NM_001142864.4(PIEZO1):c.5742C>A (p.Ser1914Arg)
NM_001142864.4(PIEZO1):c.5762G>C (p.Arg1921Thr)
NM_001142864.4(PIEZO1):c.5792G>C (p.Cys1931Ser)
NM_001142864.4(PIEZO1):c.6041C>T (p.Thr2014Ile)
NM_001142864.4(PIEZO1):c.6407G>T (p.Trp2136Leu)
NM_001142864.4(PIEZO1):c.6494AGA[6] (p.Lys2169dup) rs763477215
NM_001142864.4(PIEZO1):c.6539T>G (p.Ile2180Ser)
NM_001142864.4(PIEZO1):c.6581T>A (p.Met2194Lys)
NM_001142864.4(PIEZO1):c.6660G>C (p.Glu2220Asp)
NM_001142864.4(PIEZO1):c.6662C>T (p.Pro2221Leu)
NM_001142864.4(PIEZO1):c.6751C>T (p.Pro2251Ser)
NM_001142864.4(PIEZO1):c.6754-3C>T
NM_001142864.4(PIEZO1):c.6940G>A (p.Gly2314Arg)
NM_001142864.4(PIEZO1):c.7128C>T (p.Pro2376=)
NM_001142864.4(PIEZO1):c.7145A>G (p.Tyr2382Cys)
NM_001142864.4(PIEZO1):c.7231T>G (p.Cys2411Gly)

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