ClinVar Miner

List of variants in gene HYAL1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_033159.4(HYAL1):c.*106G>C
NM_033159.4(HYAL1):c.*173T>C rs184872974
NM_033159.4(HYAL1):c.*333C>G
NM_033159.4(HYAL1):c.*434C>T rs182987423
NM_033159.4(HYAL1):c.*459G>A rs150976767
NM_033159.4(HYAL1):c.-5G>A rs368638384
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) rs368957453
NM_033159.4(HYAL1):c.150C>T (p.Asp50=) rs377272298
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
NM_033159.4(HYAL1):c.200G>A (p.Arg67His)
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg)
NM_033159.4(HYAL1):c.408C>G (p.Arg136=)
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.545G>C (p.Trp182Ser)
NM_033159.4(HYAL1):c.551C>T (p.Ala184Val)
NM_033159.4(HYAL1):c.587G>A (p.Arg196His)
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) rs781838448
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
NM_033159.4(HYAL1):c.796G>A (p.Val266Met)
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) rs104893743
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) rs782094366
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser)
NM_033159.4(HYAL1):c.915C>T (p.His305=) rs1290078379
NM_153281.1(HYAL1):c.-191+15A>G rs886058695
NM_153281.1(HYAL1):c.-237A>T
NM_153281.1(HYAL1):c.-310+9dup rs886058696
NM_153281.1(HYAL1):c.-319T>C
NM_153281.1(HYAL1):c.-320_-319del rs782640837
NM_153281.1(HYAL1):c.-384G>A rs886058698
NM_153281.1(HYAL1):c.-395G>A rs886058699
NM_153281.1(HYAL1):c.-89G>A rs141540659
NM_153281.1(HYAL1):c.-90C>T rs886058694

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