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

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_002764.4(PRPS1):c.*762G>T	rs768310830	0.00035
NM_002764.4(PRPS1):c.*166G>A	rs371265973	0.00031
NM_002764.4(PRPS1):c.*159G>A	rs747334780	0.00019
NM_002764.4(PRPS1):c.*88C>T	rs1057515726	0.00015
NM_002764.4(PRPS1):c.*538G>T	rs1057515727	0.00005
NM_002764.4(PRPS1):c.*423T>A	rs1397267425	0.00004
NM_002764.4(PRPS1):c.*726C>T	rs1012116674	0.00004
NM_002764.4(PRPS1):c.*137C>T	rs1126445
NM_002764.4(PRPS1):c.*389G>A	rs5962870
NM_002764.4(PRPS1):c.*389G>C	rs5962870
NM_002764.4(PRPS1):c.*508G>C	rs1198892283
NM_002764.4(PRPS1):c.*538G>C	rs1057515727
NM_002764.4(PRPS1):c.*539G>C	rs370453137
NM_002764.4(PRPS1):c.*539G>T	rs370453137
NM_002764.4(PRPS1):c.*608C>T	rs1925809901
NM_002764.4(PRPS1):c.*938dup	rs1057515728
NM_002764.4(PRPS1):c.497C>T (p.Thr166Ile)	rs888601981
NM_002764.4(PRPS1):c.755T>A (p.Ile252Asn)	rs2521349567

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