ClinVar Miner

List of variants in gene combination IDUA, SLC26A1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
NM_000203.5(IDUA):c.138C>T (p.Phe46=)
NM_000203.5(IDUA):c.158+7G>T
NM_000203.5(IDUA):c.158+8C>T
NM_000203.5(IDUA):c.159-6C>T
NM_000203.5(IDUA):c.159-8G>A
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
NM_000203.5(IDUA):c.198C>G (p.Leu66=) rs773925781
NM_000203.5(IDUA):c.216C>G (p.Leu72=) rs1174720330
NM_000203.5(IDUA):c.21C>A (p.Arg7=)
NM_000203.5(IDUA):c.222C>T (p.Leu74=)
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
NM_000203.5(IDUA):c.240C>G (p.Val80=)
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser) rs564306004
NM_000203.5(IDUA):c.255C>T (p.Ile85=) rs983913564
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
NM_000203.5(IDUA):c.297C>T (p.Thr99=)
NM_000203.5(IDUA):c.299+1078del rs1553915149
NM_000203.5(IDUA):c.299+1087G>A rs1162410484
NM_000203.5(IDUA):c.299+1089del rs1553915155
NM_000203.5(IDUA):c.299+10G>A rs775172497
NM_000203.5(IDUA):c.299+10G>C rs775172497
NM_000203.5(IDUA):c.299+1104G>A rs387907484
NM_000203.5(IDUA):c.299+1127del rs1553915173
NM_000203.5(IDUA):c.299+1225G>A rs200798328
NM_000203.5(IDUA):c.299+1235_299+1261del rs1553915189
NM_000203.5(IDUA):c.299+1238del rs1553915192
NM_000203.5(IDUA):c.299+1255del rs1372086275
NM_000203.5(IDUA):c.299+1279C>T rs387907481
NM_000203.5(IDUA):c.299+1313del rs778770773
NM_000203.5(IDUA):c.299+1362_299+1363del rs1265696919
NM_000203.5(IDUA):c.299+1363dup rs1265696919
NM_000203.5(IDUA):c.299+1414_299+1415del rs1553915228
NM_000203.5(IDUA):c.299+1506del rs1553915253
NM_000203.5(IDUA):c.299+1542A>T rs387907487
NM_000203.5(IDUA):c.299+1627G>A rs387907483
NM_000203.5(IDUA):c.299+1638del rs768949918
NM_000203.5(IDUA):c.299+3322C>T rs387907486
NM_000203.5(IDUA):c.299+3360A>G rs760075470
NM_000203.5(IDUA):c.299+3399C>T rs368990025
NM_000203.5(IDUA):c.299+3410_299+3424dup rs778682733
NM_000203.5(IDUA):c.299+3410del rs756881822
NM_000203.5(IDUA):c.299+3420del rs1553915711
NM_000203.5(IDUA):c.299+3444_299+3445del rs758100654
NM_000203.5(IDUA):c.299+3446A>T rs1553915726
NM_000203.5(IDUA):c.299+3455G>T rs752252231
NM_000203.5(IDUA):c.299+3566G>T rs941971930
NM_000203.5(IDUA):c.299+3602del rs1553915784
NM_000203.5(IDUA):c.299+3617del rs1553915793
NM_000203.5(IDUA):c.299+8G>A
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
NM_000203.5(IDUA):c.42G>C (p.Leu14=) rs1021970063
NM_000203.5(IDUA):c.52C>T (p.Leu18=)
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_000203.5(IDUA):c.91C>T (p.Leu31=)
NM_000203.5(IDUA):c.96G>T (p.Val32=)

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