ClinVar Miner

List of variants in gene combination LOC110008580, ZIC2 reported as uncertain significance for Holoprosencephaly 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del) rs755522720
NM_007129.5(ZIC2):c.1365_1379del (p.Ala466_Ala470del)
NM_007129.5(ZIC2):c.1368GGC[4] (p.Ala470_Val471insAla)
NM_007129.5(ZIC2):c.1373C>T (p.Ala458Val)
NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup) rs768673486
NM_007129.5(ZIC2):c.1377_1391del (p.Ala466_Ala470del) rs752851904
NM_007129.5(ZIC2):c.1377_1391dup (p.Ala470_Val471insAlaAlaAlaAlaAla)
NM_007129.5(ZIC2):c.1377_1406del (p.Ala461_Ala470del) rs756225250
NM_007129.5(ZIC2):c.1380GGC[1] (p.Ala468_Ala470del)
NM_007129.5(ZIC2):c.1380GGC[3] (p.Ala470del)
NM_007129.5(ZIC2):c.1380GGC[5] (p.Ala470dup) rs762700653
NM_007129.5(ZIC2):c.1382_1411del (p.Ala461_Ala470del) rs2152163821
NM_007129.5(ZIC2):c.1383_1406del (p.Ala463_Ala470del)
NM_007129.5(ZIC2):c.1386_1406del (p.Ala464_Ala470del) rs761822481
NM_007129.5(ZIC2):c.1386_1406dup (p.Ala464_Ala470dup) rs761822481
NM_007129.5(ZIC2):c.1389_1406del (p.Ala465_Ala470del)
NM_007129.5(ZIC2):c.1392_1397dup (p.Ala470_Val471insAlaAla)
NM_007129.5(ZIC2):c.1392_1400del (p.Ala468_Ala470del)
NM_007129.5(ZIC2):c.1392_1400dup (p.Ala468_Ala470dup) rs765889921
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del) rs761822481
NM_007129.5(ZIC2):c.1392_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAla)
NM_007129.5(ZIC2):c.1395GGC[5] (p.Ala470_Val471insAla)
NM_007129.5(ZIC2):c.1395GGC[6] (p.Ala469_Ala470dup) rs753250735
NM_007129.5(ZIC2):c.1397_1411del (p.Ala466_Ala470del) rs767890648
NM_007129.5(ZIC2):c.1399_1413del (p.Ala467_Val471del) rs756597502
NM_007129.5(ZIC2):c.1406_1411del (p.Ala469_Ala470del)
NM_007129.5(ZIC2):c.1406_1411dup (p.Ala470_Val471insAlaAla)
NM_007129.5(ZIC2):c.1407_1409dup (p.Ala470_Val471insAla)

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.