ClinVar Miner

List of variants in gene PRPS1 studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_001204402.1(PRPS1):c.-159T>C rs869025594
NM_001204402.1(PRPS1):c.-34C>G rs137852545
NM_001204402.1(PRPS1):c.-44C>T rs137852544
NM_001204402.1(PRPS1):c.-66G>C rs137852541
NM_001204402.1(PRPS1):c.-82-2793G>C rs398122855
NM_001204402.1(PRPS1):c.-82-4197C>A rs137852543
NM_001204402.1(PRPS1):c.-82-4220C>G rs587777150
NM_001204402.1(PRPS1):c.-82-5746G>A rs180177152
NM_001204402.1(PRPS1):c.-82-5812G>A rs180177151
NM_001204402.1(PRPS1):c.-82-5851G>C rs137852542
NM_002764.3(PRPS1):c.*159G>A rs747334780
NM_002764.3(PRPS1):c.*166G>A rs371265973
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*389G>C rs5962870
NM_002764.3(PRPS1):c.*538G>C rs1057515727
NM_002764.3(PRPS1):c.*538G>T rs1057515727
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.*762G>T rs768310830
NM_002764.3(PRPS1):c.*88C>T rs1057515726
NM_002764.3(PRPS1):c.*938dup rs1057515728
NM_002764.3(PRPS1):c.-153del rs768856537
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.336T>C (p.Val112=) rs80338674
NM_002764.3(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_002764.4(PRPS1):c.*137C>T
NM_002764.4(PRPS1):c.*158C>T
NM_002764.4(PRPS1):c.*389G>A
NM_002764.4(PRPS1):c.*423T>A
NM_002764.4(PRPS1):c.*508G>C
NM_002764.4(PRPS1):c.*539G>C
NM_002764.4(PRPS1):c.*539G>T
NM_002764.4(PRPS1):c.*608C>T
NM_002764.4(PRPS1):c.*726C>T
NM_002764.4(PRPS1):c.359G>T (p.Gly120Val) rs1602901832
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) rs1602902855
NM_002764.4(PRPS1):c.433T>G (p.Leu145Val) rs768454424
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792

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.