ClinVar Miner

List of variants studied for Deafness, X-linked 1

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Total variants: 30
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HGVS dbSNP
NM_002764.4(PRPS1):c.*137C>T
NM_002764.4(PRPS1):c.*158C>T
NM_002764.4(PRPS1):c.*159G>A rs747334780
NM_002764.4(PRPS1):c.*166G>A rs371265973
NM_002764.4(PRPS1):c.*178G>A rs576933222
NM_002764.4(PRPS1):c.*389G>A
NM_002764.4(PRPS1):c.*389G>C rs5962870
NM_002764.4(PRPS1):c.*423T>A
NM_002764.4(PRPS1):c.*508G>C
NM_002764.4(PRPS1):c.*538G>C rs1057515727
NM_002764.4(PRPS1):c.*538G>T rs1057515727
NM_002764.4(PRPS1):c.*539G>C
NM_002764.4(PRPS1):c.*539G>T
NM_002764.4(PRPS1):c.*608C>T
NM_002764.4(PRPS1):c.*725T>C rs183744100
NM_002764.4(PRPS1):c.*726C>T
NM_002764.4(PRPS1):c.*762G>T rs768310830
NM_002764.4(PRPS1):c.*88C>T rs1057515726
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) rs180177151
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.4(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) rs180177154

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