ClinVar Miner

List of variants in gene PRPS1 studied for Charcot-Marie-Tooth disease, X-linked recessive, type 5

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Total variants: 6
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NM_001204402.1(PRPS1):c.-159T>C rs869025594
NM_001204402.1(PRPS1):c.-82-4220C>G rs587777150
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
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.925G>T (p.Val309Phe) rs587781263

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