ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_033159.4(HYAL1):c.*492C>T rs1283 0.06626
NM_153281.2(HYAL1):c.-132G>A rs12488302 0.05427
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04490
NM_153281.2(HYAL1):c.-414G>A rs587609136 0.01265
NM_153281.2(HYAL1):c.-271G>A rs115085570 0.01118
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974 0.01056
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.00979
NM_153281.2(HYAL1):c.-240A>G rs12634784 0.00726
NM_033159.4(HYAL1):c.*221T>C rs192692460 0.00618
NM_153281.2(HYAL1):c.-319T>C rs1429084988 0.00618
NM_153281.2(HYAL1):c.-272C>T rs139571382 0.00603
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00579
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00292
NM_033159.4(HYAL1):c.*173T>C rs184872974 0.00250
NM_153281.2(HYAL1):c.-320_-319del rs782640837 0.00154
NM_153281.2(HYAL1):c.-241C>A rs12631938 0.00087
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr) rs143176318 0.00080
NM_033159.4(HYAL1):c.*434C>T rs182987423 0.00076
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582 0.00066
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp) rs147678727 0.00046
NM_033159.4(HYAL1):c.*459G>A rs150976767 0.00022
NM_153281.2(HYAL1):c.-395G>A rs886058699 0.00020
NM_153281.2(HYAL1):c.-89G>A rs141540659 0.00019
NM_033159.4(HYAL1):c.168C>T (p.Phe56=) rs369935445 0.00014
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091 0.00012
NM_153281.2(HYAL1):c.-90C>T rs886058694 0.00008
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln) rs374011925 0.00005
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) rs782094366 0.00005
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) rs368957453 0.00004
NM_153281.2(HYAL1):c.-191+15A>G rs886058695 0.00004
NM_033159.4(HYAL1):c.-5G>A rs368638384 0.00001
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=) rs587680396 0.00001
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) rs781838448 0.00001
NM_153281.2(HYAL1):c.-384G>A rs886058698 0.00001
NM_033159.4(HYAL1):c.*106G>C rs903056291
NM_033159.4(HYAL1):c.*333C>G rs1702060462
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=) rs782279681
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser) rs1702097712
NM_153281.2(HYAL1):c.-237A>T rs1702408973
NM_153281.2(HYAL1):c.-310+12dup rs886058696

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