ClinVar Miner

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

Included ClinVar conditions (9):

Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease type X

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_002764.4(PRPS1):c.383A>T (p.Asp128Val)	rs2147682409
NM_002764.4(PRPS1):c.826C>T (p.Pro276Ser)

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