ClinVar Miner

List of variants reported as likely benign for Phosphoribosylpyrophosphate synthetase superactivity by Illumina Clinical Services Laboratory,Illumina

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Total variants: 7
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HGVS dbSNP
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.-153del rs768856537
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.456A>G (p.Leu152=) rs61735617
NM_002764.3(PRPS1):c.477C>T (p.Ile159=) rs61752962

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