List of variants in gene PRPS1 reported as pathogenic for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)	rs80338731
NM_002764.4(PRPS1):c.343A>G (p.Met115Val)	rs587781262
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)	rs587777150
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro)	rs869025594
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)	rs587781263

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