ClinVar Miner

List of variants in gene PIEZO2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.2412C>G (p.His804Gln) rs368668265 0.00031
NM_001378183.1(PIEZO2):c.2755G>A (p.Glu919Lys) rs564867814 0.00024
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His) rs373973800 0.00019
NM_001378183.1(PIEZO2):c.3728T>C (p.Ile1243Thr) rs376185795 0.00017
NM_001378183.1(PIEZO2):c.3228G>A (p.Ser1076=) rs775986213 0.00001
NM_001378183.1(PIEZO2):c.4215G>C (p.Trp1405Cys) rs778876785 0.00001
NM_001378183.1(PIEZO2):c.1202T>G (p.Leu401Arg)
NM_001378183.1(PIEZO2):c.1261G>C (p.Gly421Arg) rs202104395
NM_001378183.1(PIEZO2):c.1351C>T (p.Arg451Trp)
NM_001378183.1(PIEZO2):c.1461dup (p.Ala488fs) rs1598494173
NM_001378183.1(PIEZO2):c.1499G>C (p.Ser500Thr) rs2144238396
NM_001378183.1(PIEZO2):c.1585A>G (p.Thr529Ala)
NM_001378183.1(PIEZO2):c.4943C>T (p.Pro1648Leu)
NM_001378183.1(PIEZO2):c.5620C>T (p.Arg1874Cys)
NM_001378183.1(PIEZO2):c.605G>T (p.Arg202Leu) rs760374118
NM_001378183.1(PIEZO2):c.6983C>G (p.Ser2328Ter) rs1598367256
NM_001378183.1(PIEZO2):c.7072G>C (p.Val2358Leu)
NM_001378183.1(PIEZO2):c.7465T>C (p.Phe2489Leu)

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