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: 22
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.2412C>G (p.His804Gln) rs368668265 0.00028
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.1351C>T (p.Arg451Trp) rs757512135 0.00011
NM_001378183.1(PIEZO2):c.3217C>T (p.Arg1073Trp) rs942385292 0.00005
NM_001378183.1(PIEZO2):c.5228G>A (p.Arg1743Gln) rs886039823 0.00002
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.4599C>T (p.Gly1533=) rs2037264674 0.00001
NM_001378183.1(PIEZO2):c.7072G>C (p.Val2358Leu) rs768440877 0.00001
NM_001378183.1(PIEZO2):c.1202T>G (p.Leu401Arg) rs2510780980
NM_001378183.1(PIEZO2):c.1454A>T (p.Lys485Ile) rs2510766988
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) rs1236161907
NM_001378183.1(PIEZO2):c.3622A>G (p.Ile1208Val)
NM_001378183.1(PIEZO2):c.4943C>T (p.Pro1648Leu) rs2510455251
NM_001378183.1(PIEZO2):c.5620C>T (p.Arg1874Cys) rs563775093
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.7465T>C (p.Phe2489Leu) rs2510255982

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