ClinVar Miner

List of variants reported as likely benign for Peters plus syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150 0.00147
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) rs147485868 0.00128
NM_194318.4(B3GLCT):c.450C>A (p.Asp150Glu) rs141743580 0.00113
NM_194318.4(B3GLCT):c.850+11G>A rs199615610 0.00076
NM_194318.4(B3GLCT):c.1065-19G>T rs28668251 0.00064
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305 0.00055
NM_194318.4(B3GLCT):c.1330-5T>C rs377657178 0.00031
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388 0.00018
NM_194318.4(B3GLCT):c.537A>C (p.Thr179=) rs756907968 0.00016
NM_194318.4(B3GLCT):c.170G>C (p.Gly57Ala) rs577136660 0.00015
NM_194318.4(B3GLCT):c.1404C>T (p.Ile468=) rs372748811 0.00014
NM_194318.4(B3GLCT):c.460-8T>A rs761519440 0.00011
NM_194318.4(B3GLCT):c.661-7G>A rs371488075 0.00011
NM_194318.4(B3GLCT):c.180C>T (p.Phe60=) rs370978491 0.00006
NM_194318.4(B3GLCT):c.1173G>A (p.Thr391=) rs369715616 0.00005
NM_194318.4(B3GLCT):c.336G>A (p.Pro112=) rs751146291 0.00002
NM_194318.4(B3GLCT):c.1144C>T (p.Leu382=) rs771937233 0.00001
NM_194318.4(B3GLCT):c.297T>C (p.His99=) rs368693579 0.00001
NM_194318.4(B3GLCT):c.347+15C>T rs780562438 0.00001
NM_194318.4(B3GLCT):c.1140C>T (p.Tyr380=)
NM_194318.4(B3GLCT):c.1185-6C>A
NM_194318.4(B3GLCT):c.1191C>T (p.Val397=)
NM_194318.4(B3GLCT):c.120+10C>A
NM_194318.4(B3GLCT):c.1206C>T (p.Ala402=)
NM_194318.4(B3GLCT):c.1221C>T (p.Leu407=)
NM_194318.4(B3GLCT):c.1299C>A (p.Ile433=)
NM_194318.4(B3GLCT):c.1330-15C>G
NM_194318.4(B3GLCT):c.1330-18T>C
NM_194318.4(B3GLCT):c.1330-19CT[2]
NM_194318.4(B3GLCT):c.1338G>A (p.Pro446=)
NM_194318.4(B3GLCT):c.160+19T>A rs775283192
NM_194318.4(B3GLCT):c.270+9C>T rs567259766
NM_194318.4(B3GLCT):c.273G>A (p.Glu91=)
NM_194318.4(B3GLCT):c.348-8T>C rs1871262659
NM_194318.4(B3GLCT):c.384T>A (p.Ile128=)
NM_194318.4(B3GLCT):c.460-10del rs760674958
NM_194318.4(B3GLCT):c.585A>G (p.Pro195=)
NM_194318.4(B3GLCT):c.596+10T>C rs2137830622
NM_194318.4(B3GLCT):c.661-7G>T rs371488075
NM_194318.4(B3GLCT):c.70+14G>A
NM_194318.4(B3GLCT):c.705C>T (p.Thr235=)
NM_194318.4(B3GLCT):c.71-5_71-4del
NM_194318.4(B3GLCT):c.738C>T (p.Asp246=)
NM_194318.4(B3GLCT):c.744C>T (p.Tyr248=) rs761109871
NM_194318.4(B3GLCT):c.774G>A (p.Pro258=)
NM_194318.4(B3GLCT):c.903T>C (p.Tyr301=)
NM_194318.4(B3GLCT):c.924C>G (p.Ser308=) rs1047354805

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.