ClinVar Miner

List of variants in gene HYAL1 reported as benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_033159.4(HYAL1):c.*492C>T rs1283 0.06762
NM_153281.2(HYAL1):c.-132G>A rs12488302 0.04741
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_153281.2(HYAL1):c.-414G>A rs587609136 0.01280
NM_153281.2(HYAL1):c.-271G>A rs115085570 0.01118
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974 0.01056
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_153281.2(HYAL1):c.-240A>G rs12634784 0.00726
NM_033159.4(HYAL1):c.*221T>C rs192692460 0.00675
NM_153281.2(HYAL1):c.-272C>T rs139571382 0.00643
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00617
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018 0.00357
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00208
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582 0.00066
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) rs587637619 0.00004

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