ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_002764.4(PRPS1):c.705-11T>C rs190164271 0.00052
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) rs752194539 0.00005
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_002764.4(PRPS1):c.123-16dup rs750392051
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
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.383A>T (p.Asp128Val) rs2147682409
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.4(PRPS1):c.826C>T (p.Pro276Ser)
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe) rs587781263

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