ClinVar Miner

List of variants reported as benign for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_005270.4(GLI2):c.1294G>A (p.Val432Met) rs142296407
NM_005270.4(GLI2):c.1761G>A (p.Thr587=) rs61732852
NM_005270.4(GLI2):c.2940C>T (p.Ser980=) rs146811565
NM_005270.4(GLI2):c.3048C>T (p.Asp1016=) rs140479803
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.4332_4333delGCinsAT (p.Met1444_Leu1445delinsIlePhe) rs1553479775
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.963C>G (p.Pro321=) rs149894186
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383

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.