ClinVar Miner

List of variants studied for Arts syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
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_002764.3(PRPS1):c.-153delG rs768856537 0.00057
NM_002764.4(PRPS1):c.*725T>C rs183744100 0.00047
NM_002764.4(PRPS1):c.*158C>T rs777440100 0.00042
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.720C>T (p.Gly240=) rs746885792 0.00004
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459 0.00003
NM_002764.4(PRPS1):c.*178G>A rs576933222 0.00002
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

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