ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_033159.4(HYAL1):c.*221T>C rs192692460
NM_033159.4(HYAL1):c.*492C>T rs1283
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.419A>G (p.Asn140Ser) rs587637619
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870
NM_153281.1(HYAL1):c.-132G>A rs12488302
NM_153281.1(HYAL1):c.-240A>G rs12634784
NM_153281.1(HYAL1):c.-271G>A
NM_153281.1(HYAL1):c.-272C>T rs139571382
NM_153281.1(HYAL1):c.-414G>A rs587609136

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