ClinVar Miner

List of variants studied for Deficiency of hyaluronoglucosaminidase by Illumina Clinical Services Laboratory,Illumina

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Total variants: 41
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HGVS dbSNP
NM_033159.4(HYAL1):c.*106G>C
NM_033159.4(HYAL1):c.*173T>C rs184872974
NM_033159.4(HYAL1):c.*221T>C rs192692460
NM_033159.4(HYAL1):c.*333C>G
NM_033159.4(HYAL1):c.*434C>T rs182987423
NM_033159.4(HYAL1):c.*459G>A rs150976767
NM_033159.4(HYAL1):c.*492C>T rs1283
NM_033159.4(HYAL1):c.-5G>A rs368638384
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) rs368957453
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) rs781838448
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) rs104893743
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) rs782094366
NM_153281.1(HYAL1):c.-132G>A rs12488302
NM_153281.1(HYAL1):c.-191+15A>G rs886058695
NM_153281.1(HYAL1):c.-237A>T
NM_153281.1(HYAL1):c.-240A>G rs12634784
NM_153281.1(HYAL1):c.-241C>A rs12631938
NM_153281.1(HYAL1):c.-271G>A
NM_153281.1(HYAL1):c.-272C>T rs139571382
NM_153281.1(HYAL1):c.-310+9dup rs886058696
NM_153281.1(HYAL1):c.-319T>C
NM_153281.1(HYAL1):c.-320_-319del rs782640837
NM_153281.1(HYAL1):c.-384G>A rs886058698
NM_153281.1(HYAL1):c.-395G>A rs886058699
NM_153281.1(HYAL1):c.-414G>A rs587609136
NM_153281.1(HYAL1):c.-89G>A rs141540659
NM_153281.1(HYAL1):c.-90C>T rs886058694

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