ClinVar Miner

List of variants in gene GLI2 reported as uncertain significance for Holoprosencephaly sequence

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_005270.4(GLI2):c.*1029C>T rs182760827
NM_005270.4(GLI2):c.*1330_*1331insCTACAC rs886054822
NM_005270.4(GLI2):c.*1331_*1332insCACACA rs1349034466
NM_005270.4(GLI2):c.*1332T>C rs150397467
NM_005270.4(GLI2):c.*1369_*1376dupACACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376delACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376dupACACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376delACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376dupACAC rs59277032
NM_005270.4(GLI2):c.*1375_*1376delAC rs59277032
NM_005270.4(GLI2):c.*1375_*1376dupAC rs59277032
NM_005270.4(GLI2):c.*1376_*1377insACACCCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1377insACCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1377insACCCCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1379dupCCCC rs1553480328
NM_005270.4(GLI2):c.*1628G>T rs886054827
NM_005270.4(GLI2):c.*1819T>C rs754885960
NM_005270.4(GLI2):c.*1837_*1840dupATCT rs558203417
NM_005270.4(GLI2):c.*1888T>G rs747928542
NM_005270.4(GLI2):c.*1895G>A rs76865566
NM_005270.4(GLI2):c.*31G>A rs377195281
NM_005270.4(GLI2):c.*378A>G rs886054820
NM_005270.4(GLI2):c.*81_*82delTT rs886054819
NM_005270.4(GLI2):c.*963A>T rs191669588
NM_005270.4(GLI2):c.1173G>A (p.Ala391=) rs144819008
NM_005270.4(GLI2):c.1368+6C>G rs200971419
NM_005270.4(GLI2):c.148+15G>A rs182618064
NM_005270.4(GLI2):c.148+5T>C rs201273354
NM_005270.4(GLI2):c.1684-7T>A rs532360271
NM_005270.4(GLI2):c.1806C>T (p.Asp602=) rs139202322
NM_005270.4(GLI2):c.1941G>A (p.Lys647=) rs565184396
NM_005270.4(GLI2):c.1968C>T (p.Ser656=) rs377642084
NM_005270.4(GLI2):c.2113G>A (p.Asp705Asn) rs751513015
NM_005270.4(GLI2):c.220C>T (p.His74Tyr) rs201945889
NM_005270.4(GLI2):c.2250T>G (p.Thr750=) rs146909860
NM_005270.4(GLI2):c.2318G>A (p.Gly773Asp) rs886054812
NM_005270.4(GLI2):c.2446G>T (p.Ala816Ser) rs767780220
NM_005270.4(GLI2):c.244G>A (p.Gly82Ser) rs531807595
NM_005270.4(GLI2):c.252C>T (p.His84=) rs201412339
NM_005270.4(GLI2):c.2649G>A (p.Pro883=) rs772224406
NM_005270.4(GLI2):c.2708C>G (p.Thr903Ser) rs572826436
NM_005270.4(GLI2):c.2741G>A (p.Arg914Gln) rs886054813
NM_005270.4(GLI2):c.3006C>G (p.Ala1002=) rs886054814
NM_005270.4(GLI2):c.31G>A (p.Glu11Lys) rs574656730
NM_005270.4(GLI2):c.3237C>T (p.Asp1079=) rs769533860
NM_005270.4(GLI2):c.3279C>T (p.Phe1093=) rs886054815
NM_005270.4(GLI2):c.3460G>A (p.Val1154Ile) rs200999705
NM_005270.4(GLI2):c.3467C>T (p.Ala1156Val) rs886054816
NM_005270.4(GLI2):c.3469C>T (p.Leu1157=) rs141988240
NM_005270.4(GLI2):c.3647T>A (p.Ile1216Asn) rs886054817
NM_005270.4(GLI2):c.3698A>G (p.Gln1233Arg) rs377503122
NM_005270.4(GLI2):c.3937C>A (p.Pro1313Thr) rs767845340
NM_005270.4(GLI2):c.4030C>T (p.Leu1344=) rs149290823
NM_005270.4(GLI2):c.4065A>G (p.Gln1355=) rs374113689
NM_005270.4(GLI2):c.4221G>A (p.Pro1407=) rs200149538
NM_005270.4(GLI2):c.4259C>G (p.Ala1420Gly) rs370136073
NM_005270.4(GLI2):c.4306G>A (p.Ala1436Thr) rs376388820
NM_005270.4(GLI2):c.4344C>T (p.Tyr1448=) rs374166743
NM_005270.4(GLI2):c.4358T>C (p.Met1453Thr) rs886054818
NM_005270.4(GLI2):c.4497T>C (p.Thr1499=) rs151090814
NM_005270.4(GLI2):c.595G>A (p.Gly199Ser) rs542892514
NM_005270.4(GLI2):c.845+10G>A rs199673018

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.