ClinVar Miner

List of variants in gene PIEZO2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
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.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.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.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.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.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.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.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.8326G>T (p.Gly2776Trp)
NM_001378183.1(PIEZO2):c.910T>A (p.Tyr304Asn)
NM_001378183.1(PIEZO2):c.94T>C (p.Phe32Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.