ClinVar Miner

List of variants in gene PRPS1 reported as pathogenic for Phosphoribosylpyrophosphate synthetase superactivity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.154G>C (p.Asp52His) rs137852542
NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002764.4(PRPS1):c.385C>A (p.Leu129Ile) rs137852543
NM_002764.4(PRPS1):c.547G>C (p.Asp183His) rs137852541
NM_002764.4(PRPS1):c.569C>T (p.Ala190Val) rs137852544
NM_002764.4(PRPS1):c.579C>G (p.His193Gln) rs137852545

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