ClinVar Miner

List of variants studied for Deficiency of hyaluronoglucosaminidase by Invitae

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Total variants: 113
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HGVS dbSNP
NC_000003.11:g.(?_50339478)_(50341042_?)del
NM_033159.4(HYAL1):c.102C>G (p.Thr34=)
NM_033159.4(HYAL1):c.102C>T (p.Thr34=)
NM_033159.4(HYAL1):c.1030C>T (p.Leu344=)
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091
NM_033159.4(HYAL1):c.1044C>T (p.Ile348=)
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
NM_033159.4(HYAL1):c.1092C>T (p.Ser364=)
NM_033159.4(HYAL1):c.1098T>C (p.His366=)
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)
NM_033159.4(HYAL1):c.1173C>T (p.Leu391=)
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
NM_033159.4(HYAL1):c.1188G>T (p.Gly396=)
NM_033159.4(HYAL1):c.1197C>T (p.Ser399=)
NM_033159.4(HYAL1):c.1198C>T (p.Leu400=)
NM_033159.4(HYAL1):c.1209C>T (p.Ala403=)
NM_033159.4(HYAL1):c.120C>G (p.Thr40=)
NM_033159.4(HYAL1):c.1212C>G (p.Leu404=)
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237
NM_033159.4(HYAL1):c.1281G>A (p.Pro427=)
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) rs368957453
NM_033159.4(HYAL1):c.12C>T (p.His4=)
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter) rs1575517577
NM_033159.4(HYAL1):c.141C>T (p.His47=)
NM_033159.4(HYAL1):c.150C>T (p.Asp50=) rs377272298
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
NM_033159.4(HYAL1):c.171T>C (p.Asp57=)
NM_033159.4(HYAL1):c.189G>A (p.Gly63=) rs1553713387
NM_033159.4(HYAL1):c.200G>A (p.Arg67His)
NM_033159.4(HYAL1):c.201C>T (p.Arg67=)
NM_033159.4(HYAL1):c.204C>T (p.Gly68=)
NM_033159.4(HYAL1):c.219T>C (p.Ile73=)
NM_033159.4(HYAL1):c.222C>T (p.Phe74=) rs1559820613
NM_033159.4(HYAL1):c.231C>T (p.Ser77=)
NM_033159.4(HYAL1):c.238_239del (p.Gly80fs)
NM_033159.4(HYAL1):c.24C>T (p.Ile8=)
NM_033159.4(HYAL1):c.258G>A (p.Thr86=)
NM_033159.4(HYAL1):c.261C>T (p.Pro87=)
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080
NM_033159.4(HYAL1):c.276G>A (p.Val92=) rs373545891
NM_033159.4(HYAL1):c.27C>T (p.Cys9=)
NM_033159.4(HYAL1):c.288G>T (p.Leu96=)
NM_033159.4(HYAL1):c.321C>G (p.Ala107=)
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018
NM_033159.4(HYAL1):c.327A>G (p.Thr109=)
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg)
NM_033159.4(HYAL1):c.36C>T (p.Phe12=)
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974
NM_033159.4(HYAL1):c.408C>A (p.Arg136=) rs782343934
NM_033159.4(HYAL1):c.408C>G (p.Arg136=)
NM_033159.4(HYAL1):c.408C>T (p.Arg136=) rs782343934
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) rs587637619
NM_033159.4(HYAL1):c.420C>T (p.Asn140=)
NM_033159.4(HYAL1):c.43T>C (p.Leu15=)
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter)
NM_033159.4(HYAL1):c.44del (p.Leu15fs)
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp) rs587774476
NM_033159.4(HYAL1):c.483T>C (p.Asp161=) rs368360137
NM_033159.4(HYAL1):c.48C>T (p.Leu16=)
NM_033159.4(HYAL1):c.504G>A (p.Glu168=)
NM_033159.4(HYAL1):c.540G>A (p.Arg180=)
NM_033159.4(HYAL1):c.543C>T (p.Ala181=)
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser)
NM_033159.4(HYAL1):c.570G>A (p.Gly190=)
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
NM_033159.4(HYAL1):c.588C>T (p.Arg196=) rs782601965
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) rs374928005
NM_033159.4(HYAL1):c.600C>T (p.Gly200=)
NM_033159.4(HYAL1):c.618C>T (p.Asp206=) rs782079716
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter)
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) rs781838448
NM_033159.4(HYAL1):c.639A>G (p.Leu213=)
NM_033159.4(HYAL1):c.654C>T (p.Thr218=)
NM_033159.4(HYAL1):c.663C>T (p.Cys221=)
NM_033159.4(HYAL1):c.666A>G (p.Pro222=)
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
NM_033159.4(HYAL1):c.691del (p.Gln231fs)
NM_033159.4(HYAL1):c.694C>T (p.Leu232=)
NM_033159.4(HYAL1):c.699G>A (p.Gly233=)
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter)
NM_033159.4(HYAL1):c.726C>G (p.Leu242=)
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582
NM_033159.4(HYAL1):c.747C>T (p.Pro249=) rs139187462
NM_033159.4(HYAL1):c.753G>A (p.Val251=)
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870
NM_033159.4(HYAL1):c.771G>A (p.Lys257=)
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter)
NM_033159.4(HYAL1):c.774A>G (p.Ser258=) rs1363657470
NM_033159.4(HYAL1):c.783T>C (p.Tyr261=)
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter)
NM_033159.4(HYAL1):c.789A>G (p.Gln263=)
NM_033159.4(HYAL1):c.801C>T (p.Ala267=)
NM_033159.4(HYAL1):c.837C>T (p.Pro279=)
NM_033159.4(HYAL1):c.846G>C (p.Pro282=)
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser)
NM_033159.4(HYAL1):c.873T>C (p.Tyr291=)
NM_033159.4(HYAL1):c.879G>A (p.Thr293=)
NM_033159.4(HYAL1):c.906G>A (p.Glu302=)
NM_033159.4(HYAL1):c.909G>A (p.Leu303=)
NM_033159.4(HYAL1):c.90G>A (p.Arg30=)
NM_033159.4(HYAL1):c.915C>T (p.His305=) rs1290078379
NM_033159.4(HYAL1):c.919C>T (p.Leu307=) rs587687583
NM_033159.4(HYAL1):c.921G>A (p.Leu307=)
NM_033159.4(HYAL1):c.933G>A (p.Ala311=)
NM_033159.4(HYAL1):c.936C>G (p.Ala312=)
NM_033159.4(HYAL1):c.936C>T (p.Ala312=) rs375213606
NM_033159.4(HYAL1):c.966G>A (p.Val322=) rs1467161408
NM_033159.4(HYAL1):c.987C>G (p.Thr329=)
NM_033159.4(HYAL1):c.991-8C>G

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