ClinVar Miner

List of variants reported as pathogenic for Deficiency of hyaluronoglucosaminidase by Invitae

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter) rs782355058 0.00001
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter) rs782240278 0.00001
NC_000003.11:g.(?_50338409)_(50341042_?)del
NC_000003.11:g.(?_50339478)_(50341042_?)del
NC_000003.11:g.(?_50340112)_(50342638_?)del
NM_033159.4(HYAL1):c.104del (p.Val35fs) rs2109309063
NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs)
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter) rs1575517577
NM_033159.4(HYAL1):c.190C>T (p.Gln64Ter)
NM_033159.4(HYAL1):c.201del (p.Gly68fs)
NM_033159.4(HYAL1):c.221del (p.Phe74fs)
NM_033159.4(HYAL1):c.221dup (p.Tyr75fs) rs1450097579
NM_033159.4(HYAL1):c.238_239del (p.Gly80fs) rs782636282
NM_033159.4(HYAL1):c.250del (p.Tyr84fs)
NM_033159.4(HYAL1):c.268del (p.Glu90fs)
NM_033159.4(HYAL1):c.345_348dup (p.Ile117fs)
NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter)
NM_033159.4(HYAL1):c.410G>A (p.Trp137Ter)
NM_033159.4(HYAL1):c.440del (p.Tyr147fs)
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter) rs1702209886
NM_033159.4(HYAL1):c.445C>T (p.Gln149Ter) rs1702209367
NM_033159.4(HYAL1):c.44del (p.Leu15fs) rs1553713469
NM_033159.4(HYAL1):c.4del (p.Ala2fs)
NM_033159.4(HYAL1):c.521_524dup (p.Phe175fs) rs2109307739
NM_033159.4(HYAL1):c.545G>A (p.Trp182Ter)
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter) rs1553713200
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs) rs1702201097
NM_033159.4(HYAL1):c.597G>A (p.Trp199Ter)
NM_033159.4(HYAL1):c.599del (p.Gly200fs)
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter) rs1702200130
NM_033159.4(HYAL1):c.658C>T (p.Gln220Ter)
NM_033159.4(HYAL1):c.663_670dup (p.Gly224fs) rs1702197212
NM_033159.4(HYAL1):c.691del (p.Gln231fs) rs1553713128
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter) rs2109307152
NM_033159.4(HYAL1):c.775C>T (p.Gln259Ter)
NM_033159.4(HYAL1):c.81del (p.Asn29fs) rs781974681
NM_033159.4(HYAL1):c.85_88dup (p.Arg30fs)
NM_033159.4(HYAL1):c.937C>T (p.Gln313Ter) rs2109304251

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