ClinVar Miner

List of variants in gene PIEZO2 reported by Ambry Genetics

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Gene type:
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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.1249G>C (p.Val417Leu) rs369473273 0.00149
NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr) rs147666072 0.00109
NM_001378183.1(PIEZO2):c.6223C>T (p.Arg2075Cys) rs577065337 0.00061
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met) rs371432372 0.00044
NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg) rs749257673 0.00031
NM_001378183.1(PIEZO2):c.3907G>C (p.Asp1303His) rs371703803 0.00025
NM_001378183.1(PIEZO2):c.2755G>A (p.Glu919Lys) rs564867814 0.00024
NM_001378183.1(PIEZO2):c.1861A>T (p.Ser621Cys) rs376057592 0.00021
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His) rs373973800 0.00019
NM_001378183.1(PIEZO2):c.947C>A (p.Thr316Lys) rs374993280 0.00019
NM_001378183.1(PIEZO2):c.3728T>C (p.Ile1243Thr) rs376185795 0.00017
NM_001378183.1(PIEZO2):c.5200G>T (p.Asp1734Tyr) rs776252501 0.00009
NM_001378183.1(PIEZO2):c.86G>T (p.Gly29Val) rs772178114 0.00004
NM_001378183.1(PIEZO2):c.910T>C (p.Tyr304His) rs751565062 0.00004
NM_001378183.1(PIEZO2):c.5917G>A (p.Asp1973Asn) rs998757704 0.00003
NM_001378183.1(PIEZO2):c.359T>C (p.Ile120Thr) rs553064623 0.00001
NM_001378183.1(PIEZO2):c.1129C>G (p.Pro377Ala)
NM_001378183.1(PIEZO2):c.1157G>A (p.Arg386Gln)
NM_001378183.1(PIEZO2):c.1184C>T (p.Pro395Leu)
NM_001378183.1(PIEZO2):c.1261G>C (p.Gly421Arg) rs202104395
NM_001378183.1(PIEZO2):c.1281C>A (p.His427Gln)
NM_001378183.1(PIEZO2):c.1340C>T (p.Thr447Ile)
NM_001378183.1(PIEZO2):c.134C>T (p.Ser45Leu)
NM_001378183.1(PIEZO2):c.1351C>T (p.Arg451Trp)
NM_001378183.1(PIEZO2):c.1373C>G (p.Ser458Cys)
NM_001378183.1(PIEZO2):c.1411G>C (p.Glu471Gln)
NM_001378183.1(PIEZO2):c.1432C>T (p.Arg478Cys)
NM_001378183.1(PIEZO2):c.1504A>G (p.Ile502Val)
NM_001378183.1(PIEZO2):c.1941A>C (p.Glu647Asp)
NM_001378183.1(PIEZO2):c.1943C>A (p.Ala648Glu)
NM_001378183.1(PIEZO2):c.1973T>G (p.Val658Gly)
NM_001378183.1(PIEZO2):c.2027G>T (p.Gly676Val)
NM_001378183.1(PIEZO2):c.2113G>A (p.Val705Ile)
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378183.1(PIEZO2):c.2295T>A (p.Asn765Lys)
NM_001378183.1(PIEZO2):c.2384C>T (p.Thr795Ile)
NM_001378183.1(PIEZO2):c.2398G>T (p.Val800Leu)
NM_001378183.1(PIEZO2):c.2431C>T (p.Arg811Trp)
NM_001378183.1(PIEZO2):c.2449G>C (p.Asp817His)
NM_001378183.1(PIEZO2):c.2579C>T (p.Pro860Leu)
NM_001378183.1(PIEZO2):c.2590C>T (p.Leu864Phe)
NM_001378183.1(PIEZO2):c.2683T>C (p.Tyr895His)
NM_001378183.1(PIEZO2):c.272C>T (p.Ala91Val)
NM_001378183.1(PIEZO2):c.2973G>T (p.Leu991Phe)
NM_001378183.1(PIEZO2):c.3001G>A (p.Ala1001Thr)
NM_001378183.1(PIEZO2):c.303G>T (p.Lys101Asn)
NM_001378183.1(PIEZO2):c.305C>T (p.Thr102Ile)
NM_001378183.1(PIEZO2):c.3184G>A (p.Ala1062Thr)
NM_001378183.1(PIEZO2):c.3482G>C (p.Gly1161Ala)
NM_001378183.1(PIEZO2):c.349G>A (p.Gly117Ser)
NM_001378183.1(PIEZO2):c.3507G>A (p.Met1169Ile)
NM_001378183.1(PIEZO2):c.3517T>A (p.Cys1173Ser)
NM_001378183.1(PIEZO2):c.3529G>A (p.Ala1177Thr)
NM_001378183.1(PIEZO2):c.3763T>G (p.Phe1255Val)
NM_001378183.1(PIEZO2):c.3780del (p.Cys1260fs) rs1555639568
NM_001378183.1(PIEZO2):c.3838G>A (p.Ala1280Thr)
NM_001378183.1(PIEZO2):c.3953T>C (p.Ile1318Thr)
NM_001378183.1(PIEZO2):c.4112G>T (p.Trp1371Leu)
NM_001378183.1(PIEZO2):c.4126G>T (p.Ala1376Ser)
NM_001378183.1(PIEZO2):c.4163T>C (p.Leu1388Pro) rs1555638058
NM_001378183.1(PIEZO2):c.4167+1G>C rs1555638052
NM_001378183.1(PIEZO2):c.4238C>T (p.Ala1413Val)
NM_001378183.1(PIEZO2):c.4387G>A (p.Val1463Met)
NM_001378183.1(PIEZO2):c.4397T>C (p.Ile1466Thr)
NM_001378183.1(PIEZO2):c.4438T>G (p.Phe1480Val)
NM_001378183.1(PIEZO2):c.4453del (p.Ile1484_Val1485insTer) rs2037335667
NM_001378183.1(PIEZO2):c.4475T>C (p.Ile1492Thr)
NM_001378183.1(PIEZO2):c.448G>A (p.Asp150Asn)
NM_001378183.1(PIEZO2):c.4501C>G (p.Gln1501Glu)
NM_001378183.1(PIEZO2):c.4609C>A (p.Gln1537Lys)
NM_001378183.1(PIEZO2):c.4684C>T (p.Arg1562Trp)
NM_001378183.1(PIEZO2):c.4742C>A (p.Thr1581Lys)
NM_001378183.1(PIEZO2):c.4742C>T (p.Thr1581Met)
NM_001378183.1(PIEZO2):c.5050C>G (p.Arg1684Gly)
NM_001378183.1(PIEZO2):c.5067C>G (p.Ile1689Met)
NM_001378183.1(PIEZO2):c.5153T>C (p.Val1718Ala)
NM_001378183.1(PIEZO2):c.5244A>T (p.Arg1748Ser)
NM_001378183.1(PIEZO2):c.560G>A (p.Gly187Asp)
NM_001378183.1(PIEZO2):c.5642T>A (p.Ile1881Asn)
NM_001378183.1(PIEZO2):c.5649G>T (p.Glu1883Asp)
NM_001378183.1(PIEZO2):c.5650G>A (p.Val1884Met)
NM_001378183.1(PIEZO2):c.5689C>T (p.Pro1897Ser)
NM_001378183.1(PIEZO2):c.5716G>A (p.Glu1906Lys)
NM_001378183.1(PIEZO2):c.5720C>T (p.Ala1907Val)
NM_001378183.1(PIEZO2):c.5752G>A (p.Glu1918Lys)
NM_001378183.1(PIEZO2):c.5855A>G (p.His1952Arg)
NM_001378183.1(PIEZO2):c.5878G>A (p.Asp1960Asn)
NM_001378183.1(PIEZO2):c.587C>G (p.Thr196Arg)
NM_001378183.1(PIEZO2):c.5929G>A (p.Asp1977Asn)
NM_001378183.1(PIEZO2):c.6007C>G (p.His2003Asp)
NM_001378183.1(PIEZO2):c.604C>T (p.Arg202Cys)
NM_001378183.1(PIEZO2):c.6056G>A (p.Arg2019Gln)
NM_001378183.1(PIEZO2):c.605G>T (p.Arg202Leu) rs760374118
NM_001378183.1(PIEZO2):c.6101G>A (p.Arg2034His)
NM_001378183.1(PIEZO2):c.6112G>A (p.Val2038Met)
NM_001378183.1(PIEZO2):c.6124G>A (p.Val2042Met)
NM_001378183.1(PIEZO2):c.6202T>A (p.Leu2068Met) rs112982077
NM_001378183.1(PIEZO2):c.6253A>G (p.Thr2085Ala)
NM_001378183.1(PIEZO2):c.6298T>C (p.Phe2100Leu)
NM_001378183.1(PIEZO2):c.6374A>C (p.Lys2125Thr)
NM_001378183.1(PIEZO2):c.654G>C (p.Met218Ile)
NM_001378183.1(PIEZO2):c.6596C>T (p.Thr2199Ile)
NM_001378183.1(PIEZO2):c.6614C>T (p.Thr2205Ile)
NM_001378183.1(PIEZO2):c.6838A>T (p.Ile2280Phe)
NM_001378183.1(PIEZO2):c.6899C>G (p.Thr2300Ser)
NM_001378183.1(PIEZO2):c.6958G>A (p.Gly2320Ser)
NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)
NM_001378183.1(PIEZO2):c.7072G>C (p.Val2358Leu)
NM_001378183.1(PIEZO2):c.7102A>G (p.Thr2368Ala)
NM_001378183.1(PIEZO2):c.7135C>T (p.Leu2379Phe)
NM_001378183.1(PIEZO2):c.7165T>G (p.Phe2389Val)
NM_001378183.1(PIEZO2):c.7484G>A (p.Arg2495Gln)
NM_001378183.1(PIEZO2):c.7567G>A (p.Val2523Ile)
NM_001378183.1(PIEZO2):c.7796T>C (p.Leu2599Pro)
NM_001378183.1(PIEZO2):c.782G>A (p.Arg261Gln)
NM_001378183.1(PIEZO2):c.7911del (p.Asn2638fs) rs745895175
NM_001378183.1(PIEZO2):c.791A>G (p.Asp264Gly)
NM_001378183.1(PIEZO2):c.8035G>A (p.Ala2679Thr)
NM_001378183.1(PIEZO2):c.8119C>T (p.Pro2707Ser)
NM_001378183.1(PIEZO2):c.8159C>A (p.Ser2720Tyr)
NM_001378183.1(PIEZO2):c.8267C>A (p.Pro2756Gln)
NM_001378183.1(PIEZO2):c.8326G>T (p.Gly2776Trp)
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378183.1(PIEZO2):c.910T>A (p.Tyr304Asn)
NM_001378183.1(PIEZO2):c.94T>C (p.Phe32Leu)

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