ClinVar Miner

List of variants in gene IDUA reported by Preventiongenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17097
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_000203.5(IDUA):c.1524+41G>T rs188458034 0.14666
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03133
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00016
NM_000203.5(IDUA):c.493+31C>T rs753488998 0.00003
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter)
NM_000203.5(IDUA):c.1921G>T (p.Val641Phe)
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.487T>C (p.Tyr163His)
NM_000203.5(IDUA):c.513T>A (p.His171Gln)
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.973-45G>C rs6831021

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