ClinVar Miner

List of variants in gene PRPS1 reported as uncertain significance for Arts syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.*159G>A rs747334780 0.00017
NM_002764.4(PRPS1):c.*166G>A rs371265973 0.00014
NM_002764.4(PRPS1):c.*88C>T rs1057515726 0.00014
NM_002764.4(PRPS1):c.*762G>T rs768310830 0.00009
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.611G>A (p.Arg204His) rs1169615098 0.00003
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.179G>A (p.Cys60Tyr)
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) rs1602902855
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln) rs867288458
NM_002764.4(PRPS1):c.733T>C (p.Tyr245His)
NM_002764.4(PRPS1):c.842T>G (p.Met281Arg) rs1925733763

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