ClinVar Miner

List of variants studied for Arts syndrome

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP
NM_002764.3(PRPS1):c.*159G>A rs747334780
NM_002764.3(PRPS1):c.*166G>A rs371265973
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*389G>C rs5962870
NM_002764.3(PRPS1):c.*538G>C rs1057515727
NM_002764.3(PRPS1):c.*538G>T rs1057515727
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.*762G>T rs768310830
NM_002764.3(PRPS1):c.*88C>T rs1057515726
NM_002764.3(PRPS1):c.*938dupA rs1057515728
NM_002764.3(PRPS1):c.-153delG rs768856537
NM_002764.3(PRPS1):c.336T>C (p.Val112=) rs80338674
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.424G>C (p.Val142Leu) rs398122855
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.3(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.3(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) rs869025593

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