ClinVar Miner

List of variants studied for Deficiency of hyaluronoglucosaminidase by Natera, Inc.

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Total variants: 16
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HGVS dbSNP
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
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.150C>T (p.Asp50=) rs377272298
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.419A>G (p.Asn140Ser) rs587637619
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.551C>T (p.Ala184Val)
NM_033159.4(HYAL1):c.587G>A (p.Arg196His)
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.796G>A (p.Val266Met)
NM_033159.4(HYAL1):c.915C>T (p.His305=) rs1290078379

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