ClinVar Miner

List of variants reported as uncertain significance for Deficiency of hyaluronoglucosaminidase by Invitae

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr) rs143176318 0.00082
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp) rs147678727 0.00046
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp) rs202067357 0.00009
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln) rs374011925 0.00006
NM_033159.4(HYAL1):c.587G>A (p.Arg196His) rs782200654 0.00006
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser) rs1346505806 0.00005
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) rs368957453 0.00004
NM_033159.4(HYAL1):c.14T>C (p.Leu5Pro) rs138329304 0.00004
NM_033159.4(HYAL1):c.108G>C (p.Trp36Cys) rs782450263 0.00003
NM_033159.4(HYAL1):c.449G>A (p.Arg150His) rs782788446 0.00002
NM_033159.4(HYAL1):c.734G>A (p.Ser245Asn) rs376502179 0.00002
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His) rs587595632 0.00001
NM_033159.4(HYAL1):c.1280C>T (p.Pro427Leu) rs782298295 0.00001
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp) rs782616691 0.00001
NM_033159.4(HYAL1):c.200G>A (p.Arg67His) rs782491043 0.00001
NM_033159.4(HYAL1):c.28G>A (p.Ala10Thr) rs782713825 0.00001
NM_033159.4(HYAL1):c.355G>T (p.Ala119Ser) rs587647302 0.00001
NM_033159.4(HYAL1):c.463G>T (p.Val155Leu) rs1473371417 0.00001
NM_033159.4(HYAL1):c.539G>A (p.Arg180Gln) rs782751421 0.00001
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) rs104893743 0.00001
NM_033159.4(HYAL1):c.952G>A (p.Val318Met) rs1553712745 0.00001
NM_033159.4(HYAL1):c.103G>A (p.Val35Ile)
NM_033159.4(HYAL1):c.104T>A (p.Val35Asp)
NM_033159.4(HYAL1):c.1058G>A (p.Ser353Asn)
NM_033159.4(HYAL1):c.10C>T (p.His4Tyr)
NM_033159.4(HYAL1):c.1103G>A (p.Arg368His)
NM_033159.4(HYAL1):c.1111C>T (p.Arg371Cys)
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe) rs782055404
NM_033159.4(HYAL1):c.1144_1146del (p.Leu382del)
NM_033159.4(HYAL1):c.1156A>T (p.Ser386Cys) rs781999703
NM_033159.4(HYAL1):c.1159T>G (p.Phe387Val)
NM_033159.4(HYAL1):c.1177C>G (p.Pro393Ala)
NM_033159.4(HYAL1):c.1202G>A (p.Arg401Gln)
NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)
NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)
NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)
NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)
NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)
NM_033159.4(HYAL1):c.151G>A (p.Val51Met)
NM_033159.4(HYAL1):c.155A>G (p.Asp52Gly)
NM_033159.4(HYAL1):c.156T>A (p.Asp52Glu)
NM_033159.4(HYAL1):c.169G>A (p.Asp57Asn)
NM_033159.4(HYAL1):c.203G>A (p.Gly68Asp)
NM_033159.4(HYAL1):c.206C>G (p.Pro69Arg)
NM_033159.4(HYAL1):c.227G>T (p.Ser76Ile) rs1221211075
NM_033159.4(HYAL1):c.239G>T (p.Gly80Val)
NM_033159.4(HYAL1):c.297T>G (p.Asn99Lys) rs782638873
NM_033159.4(HYAL1):c.315C>G (p.His105Gln)
NM_033159.4(HYAL1):c.322C>T (p.Arg108Cys)
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg) rs781865734
NM_033159.4(HYAL1):c.370G>A (p.Gly124Arg)
NM_033159.4(HYAL1):c.383T>C (p.Ile128Thr)
NM_033159.4(HYAL1):c.397T>C (p.Trp133Arg) rs1471550375
NM_033159.4(HYAL1):c.400C>T (p.Arg134Cys)
NM_033159.4(HYAL1):c.401G>C (p.Arg134Pro)
NM_033159.4(HYAL1):c.406C>T (p.Arg136Cys)
NM_033159.4(HYAL1):c.407G>A (p.Arg136His) rs376279134
NM_033159.4(HYAL1):c.408C>G (p.Arg136=) rs782343934
NM_033159.4(HYAL1):c.443G>A (p.Arg148Gln) rs144539557
NM_033159.4(HYAL1):c.448C>T (p.Arg150Cys)
NM_033159.4(HYAL1):c.455G>A (p.Arg152Gln) rs781929111
NM_033159.4(HYAL1):c.49G>C (p.Asp17His)
NM_033159.4(HYAL1):c.523T>C (p.Phe175Leu)
NM_033159.4(HYAL1):c.547A>G (p.Met183Val)
NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln)
NM_033159.4(HYAL1):c.586C>T (p.Arg196Cys)
NM_033159.4(HYAL1):c.605A>G (p.Tyr202Cys)
NM_033159.4(HYAL1):c.655G>A (p.Gly219Ser)
NM_033159.4(HYAL1):c.676C>A (p.Arg226Ser)
NM_033159.4(HYAL1):c.697G>C (p.Gly233Arg)
NM_033159.4(HYAL1):c.71G>T (p.Gly24Val)
NM_033159.4(HYAL1):c.734G>C (p.Ser245Thr)
NM_033159.4(HYAL1):c.748G>A (p.Ala250Thr)
NM_033159.4(HYAL1):c.827C>T (p.Ala276Val)
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser) rs902728091
NM_033159.4(HYAL1):c.872A>G (p.Tyr291Cys)
NM_033159.4(HYAL1):c.886C>G (p.His296Asp)
NM_033159.4(HYAL1):c.88C>T (p.Arg30Trp)
NM_033159.4(HYAL1):c.899del (p.Leu300fs)
NM_033159.4(HYAL1):c.900G>C (p.Leu300=)
NM_033159.4(HYAL1):c.931G>A (p.Ala311Thr)
NM_033159.4(HYAL1):c.943dup (p.Ala315fs)
NM_033159.4(HYAL1):c.958C>A (p.Leu320Ile) rs1553712742

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