ClinVar Miner

List of variants in gene IDUA 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: 32
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HGVS dbSNP
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436
NM_000203.5(IDUA):c.1190-19G>C
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479
NM_000203.5(IDUA):c.1403-14G>T rs368368416
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1525-38T>C rs1131853
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626
NM_000203.5(IDUA):c.493+10C>T rs200000194
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191

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