ClinVar Miner

List of variants studied for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP
1 bp del G 7
GLI2, 1-BP DEL, NT2274
NM_005270.4(GLI2):c.1120C>T (p.Arg374Cys) rs200076785
NM_005270.4(GLI2):c.1294G>A (p.Val432Met) rs142296407
NM_005270.4(GLI2):c.1323G>A (p.Trp441Ter) rs121917707
NM_005270.4(GLI2):c.1435C>G (p.Arg479Gly) rs121917708
NM_005270.4(GLI2):c.1541A>C (p.Tyr514Ser) rs1553477146
NM_005270.4(GLI2):c.1761G>A (p.Thr587=) rs61732852
NM_005270.4(GLI2):c.1885G>A (p.Glu629Lys) rs387907277
NM_005270.4(GLI2):c.192dup (p.Asp65Terfs)
NM_005270.4(GLI2):c.1956+1G>A
NM_005270.4(GLI2):c.2554G>A (p.Ala852Thr) rs751028726
NM_005270.4(GLI2):c.2940C>T (p.Ser980=) rs146811565
NM_005270.4(GLI2):c.2990C>G (p.Pro997Arg) rs563818052
NM_005270.4(GLI2):c.3048C>T (p.Asp1016=) rs140479803
NM_005270.4(GLI2):c.3261dupC (p.Thr1088Hisfs) rs1057518689
NM_005270.4(GLI2):c.3882G>A (p.Thr1294=) rs115052795
NM_005270.4(GLI2):c.3943C>T (p.Pro1315Ser) rs114376238
NM_005270.4(GLI2):c.4054A>G (p.Met1352Val) rs149140724
NM_005270.4(GLI2):c.4198G>T (p.Gly1400Cys) rs143914758
NM_005270.4(GLI2):c.4332_4333delGCinsAT (p.Met1444_Leu1445delinsIlePhe) rs1553479775
NM_005270.4(GLI2):c.451G>C (p.Ala151Pro) rs781771721
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4654A>T (p.Thr1552Ser) rs1057518657
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005270.4(GLI2):c.713T>C (p.Leu238Pro)
NM_005270.4(GLI2):c.864_865del (p.His289Profs) rs398122882
NM_005270.4(GLI2):c.891delG (p.Gln297Hisfs) rs1057518696
NM_005270.4(GLI2):c.963C>G (p.Pro321=) rs149894186
NM_005618.3(DLL1):c.2117C>T (p.Ser706Leu) rs760189276
NM_007129.3(ZIC2):c.1366_1368(15_45) rs749567106
NM_007129.3:c.1148_1464del
NM_007129.4(ZIC2):c.1040_1046del (p.Glu348Serfs) rs397515365
NM_007129.4(ZIC2):c.1076-2A>T rs1555332361
NM_007129.4(ZIC2):c.1085_1131del47 (p.Pro362Glnfs) rs1555332362
NM_007129.4(ZIC2):c.1091_1092del (p.Gln364Leufs) rs397515500
NM_007129.4(ZIC2):c.1095_1096del (p.Cys365Terfs) rs1060499562
NM_007129.4(ZIC2):c.1097_1098delAG (p.Glu366Valfs) rs1060499564
NM_007129.4(ZIC2):c.1229_1234del (p.Lys410_His411del)
NM_007129.4(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_007129.4(ZIC2):c.1318dup (p.Leu440Profs) rs397515364
NM_007129.4(ZIC2):c.1326C>T (p.Ser442=) rs182192729
NM_007129.4(ZIC2):c.1377_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs756225250
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.4(ZIC2):c.213G>A (p.Pro71=) rs189469383
NM_007129.4(ZIC2):c.321del (p.Tyr108Thrfs) rs1555332212
NM_007129.4(ZIC2):c.381_382del (p.Asp128Leufs)
NM_007129.4(ZIC2):c.716_718delACC (p.His239del) rs398124241
NM_007129.4(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563
NM_007129.4(ZIC2):c.936del (p.Lys312Asnfs) rs397515499
ZIC2, 2-BP DEL, 180AC
ZIC2, 7-BP DEL, NT392

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.