ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870

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