ClinVar Miner

List of variants in gene SIRT1 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012238.5(SIRT1):c.1071A>T (p.Gln357His) rs116374368 0.00017
NM_012238.5(SIRT1):c.535A>G (p.Arg179Gly) rs200805107 0.00013
NM_012238.5(SIRT1):c.2099A>G (p.Asn700Ser) rs116459300 0.00012
NM_012238.5(SIRT1):c.1907G>A (p.Arg636Gln) rs771135356 0.00007
NM_012238.5(SIRT1):c.446G>A (p.Gly149Asp) rs978488168 0.00006
NM_012238.5(SIRT1):c.1906C>T (p.Arg636Trp) rs201647881 0.00003
NM_012238.5(SIRT1):c.2109A>C (p.Glu703Asp) rs201327262 0.00002
NM_012238.5(SIRT1):c.1061C>T (p.Ala354Val) rs141528984 0.00001
NM_012238.5(SIRT1):c.1289A>G (p.Lys430Arg) rs772640272 0.00001
NM_012238.5(SIRT1):c.1417C>T (p.His473Tyr) rs751498023 0.00001
NM_012238.5(SIRT1):c.1969G>A (p.Val657Ile) rs199502996 0.00001
NM_012238.5(SIRT1):c.2066T>G (p.Met689Arg) rs750707792 0.00001
NM_012238.5(SIRT1):c.2132G>C (p.Arg711Thr) rs774376548 0.00001
NM_012238.5(SIRT1):c.2169T>A (p.Asp723Glu) rs775109357 0.00001
NM_012238.5(SIRT1):c.353A>G (p.Asp118Gly) rs1842453200 0.00001
NM_012238.5(SIRT1):c.392A>G (p.Glu131Gly) rs1406007212 0.00001
NM_012238.5(SIRT1):c.557C>G (p.Thr186Ser) rs201841214 0.00001
NM_012238.5(SIRT1):c.631C>A (p.Pro211Thr) rs201007799 0.00001
NM_012238.5(SIRT1):c.841G>A (p.Ala281Thr) rs1842572334 0.00001
NM_012238.5(SIRT1):c.998C>T (p.Ser333Leu) rs200610338 0.00001
NC_000010.10:g.(?_69644213)_(69651332_?)dup
NM_012238.5(SIRT1):c.1122dup (p.Lys375Ter) rs2492951288
NM_012238.5(SIRT1):c.1125A>C (p.Lys375Asn) rs2492951297
NM_012238.5(SIRT1):c.1151G>A (p.Arg384Gln)
NM_012238.5(SIRT1):c.1231A>G (p.Ile411Val) rs149206117
NM_012238.5(SIRT1):c.1497A>C (p.Lys499Asn) rs1173354902
NM_012238.5(SIRT1):c.1565C>T (p.Ala522Val)
NM_012238.5(SIRT1):c.1605AGA[1] (p.Glu536del) rs2492964168
NM_012238.5(SIRT1):c.1810G>A (p.Gly604Ser)
NM_012238.5(SIRT1):c.1900A>G (p.Ser634Gly) rs2492965440
NM_012238.5(SIRT1):c.2063C>A (p.Pro688His) rs765609303
NM_012238.5(SIRT1):c.2066T>A (p.Met689Lys) rs750707792
NM_012238.5(SIRT1):c.2183A>C (p.Asn728Thr) rs761406151
NM_012238.5(SIRT1):c.2206G>A (p.Glu736Lys) rs1564896279
NM_012238.5(SIRT1):c.2235_2238del (p.Lys746fs) rs1432077432
NM_012238.5(SIRT1):c.372CGA[2] (p.Asp126_Asp127del) rs751108703
NM_012238.5(SIRT1):c.372CGA[5] (p.Asp127dup) rs751108703
NM_012238.5(SIRT1):c.403GCG[4] (p.Ala139del) rs36062014
NM_012238.5(SIRT1):c.403GCG[6] (p.Ala139dup) rs36062014
NM_012238.5(SIRT1):c.438_440del (p.Leu147del) rs753268782
NM_012238.5(SIRT1):c.492GGA[1] (p.Glu165del) rs1166803467
NM_012238.5(SIRT1):c.735T>A (p.Asp245Glu) rs201479376
NM_012238.5(SIRT1):c.913G>C (p.Asp305His)

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.