ClinVar Miner

List of variants reported as pathogenic for Phosphoribosylpyrophosphate synthetase superactivity by OMIM

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Total variants: 6
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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.-82-4197C>A rs137852543
NM_001204402.1(PRPS1):c.-82-5851G>C rs137852542
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540

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