ClinVar Miner

List of variants reported as uncertain significance for Peters plus syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.181G>A (p.Val61Ile) rs375667011 0.00021
NM_194318.4(B3GLCT):c.56T>C (p.Leu19Pro) rs999173078 0.00018
NM_194318.4(B3GLCT):c.129G>C (p.Glu43Asp) rs572785989 0.00009
NM_194318.4(B3GLCT):c.344C>T (p.Pro115Leu) rs142421716 0.00009
NM_194318.4(B3GLCT):c.127G>A (p.Glu43Lys) rs779035727 0.00006
NM_194318.4(B3GLCT):c.504A>G (p.Ile168Met) rs116639305 0.00006
NM_194318.4(B3GLCT):c.1447G>A (p.Glu483Lys) rs780383474 0.00005
NM_194318.4(B3GLCT):c.932C>T (p.Thr311Ile) rs201027107 0.00005
NM_194318.4(B3GLCT):c.17G>A (p.Cys6Tyr) rs759120105 0.00004
NM_194318.4(B3GLCT):c.728A>G (p.Asn243Ser) rs371506964 0.00004
NM_194318.4(B3GLCT):c.673A>G (p.Ile225Val) rs766659397 0.00003
NM_194318.4(B3GLCT):c.716A>G (p.Glu239Gly) rs367648804 0.00003
NM_194318.4(B3GLCT):c.1451A>G (p.Asp484Gly) rs1478212820 0.00002
NM_194318.4(B3GLCT):c.335C>T (p.Pro112Leu) rs372324692 0.00002
NM_194318.4(B3GLCT):c.1330-3C>T rs371236148 0.00001
NM_194318.4(B3GLCT):c.28C>T (p.Leu10Phe) rs1868555206 0.00001
NM_194318.4(B3GLCT):c.466T>A (p.Phe156Ile) rs976708734 0.00001
NM_194318.4(B3GLCT):c.704C>T (p.Thr235Ile) rs150444977 0.00001
NC_000013.10:g.(?_31774222)_(31860976_?)dup
NC_000013.11:g.(?_31200065)_(31286839_?)dup
NM_194318.4(B3GLCT):c.1064+5G>T rs749084947
NM_194318.4(B3GLCT):c.1135G>A (p.Gly379Ser) rs375168040
NM_194318.4(B3GLCT):c.1318C>G (p.Leu440Val) rs142935066
NM_194318.4(B3GLCT):c.1324C>T (p.His442Tyr)
NM_194318.4(B3GLCT):c.1334G>A (p.Arg445Gln)
NM_194318.4(B3GLCT):c.1347C>A (p.Tyr449Ter) rs2137957629
NM_194318.4(B3GLCT):c.1370A>G (p.Gln457Arg) rs2137957679
NM_194318.4(B3GLCT):c.1405G>A (p.Asp469Asn)
NM_194318.4(B3GLCT):c.1405G>T (p.Asp469Tyr) rs141036237
NM_194318.4(B3GLCT):c.1487A>G (p.Glu496Gly) rs1875814798
NM_194318.4(B3GLCT):c.256G>T (p.Ala86Ser) rs1870254261
NM_194318.4(B3GLCT):c.270+15C>G rs1336731357
NM_194318.4(B3GLCT):c.289C>T (p.Leu97Phe)
NM_194318.4(B3GLCT):c.35_52del (p.Pro12_Ala17del)
NM_194318.4(B3GLCT):c.434C>T (p.Thr145Ile)
NM_194318.4(B3GLCT):c.496G>A (p.Ala166Thr)
NM_194318.4(B3GLCT):c.694C>G (p.Pro232Ala) rs890958730
NM_194318.4(B3GLCT):c.764C>A (p.Ser255Tyr) rs1182400359
NM_194318.4(B3GLCT):c.856A>G (p.Ile286Val) rs116754126
NM_194318.4(B3GLCT):c.856A>T (p.Ile286Phe)
NM_194318.4(B3GLCT):c.968A>G (p.His323Arg) rs1566082139

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.