ClinVar Miner

List of variants in gene PRPS1 reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.154G>C (p.Asp52His) rs137852542
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.362C>G (p.Ala121Gly) rs587777150
NM_002764.3(PRPS1):c.385C>A (p.Leu129Ile) rs137852543
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.424G>C (p.Val142Leu) rs398122855
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.3(PRPS1):c.547G>C (p.Asp183His) rs137852541
NM_002764.3(PRPS1):c.569C>T (p.Ala190Val) rs137852544
NM_002764.3(PRPS1):c.579C>G (p.His193Gln) rs137852545
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263

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