ClinVar Miner

List of variants in gene IDUA, SLC26A1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.-2C>T
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) rs886059750
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
NM_000203.5(IDUA):c.130C>A (p.Arg44=) rs558851990
NM_000203.5(IDUA):c.138C>T (p.Phe46=)
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.158+7G>T
NM_000203.5(IDUA):c.158+8C>T
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.159-2A>C
NM_000203.5(IDUA):c.159-2A>G
NM_000203.5(IDUA):c.159-6C>T
NM_000203.5(IDUA):c.159-8G>A
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) rs1577508778
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) rs1577508801
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
NM_000203.5(IDUA):c.198C>G (p.Leu66=) rs773925781
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000203.5(IDUA):c.209del (p.Gln70fs)
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.223G>A (p.Ala75Thr) rs758452450
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
NM_000203.5(IDUA):c.240C>G (p.Val80=)
NM_000203.5(IDUA):c.242dup (p.His82fs)
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
NM_000203.5(IDUA):c.248G>A (p.Arg83His) rs141461803
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061
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.265C>T (p.Arg89Trp) rs754966840
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
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+1212del rs1553915188
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+1947A>G rs148386572
NM_000203.5(IDUA):c.299+1G>T rs398123259
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+6C>T rs147498923
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.299+8G>A
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606
NM_000203.5(IDUA):c.299_299+1delinsAT
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.34_45dup (p.Ala12_Ala15dup) rs1553914754
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.42G>C (p.Leu14=) rs1021970063
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.52C>T (p.Leu18=)
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.60del (p.Pro22fs)
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759
NM_000203.5(IDUA):c.65del (p.Pro22fs)
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_000203.5(IDUA):c.87del (p.His30fs)
NM_000203.5(IDUA):c.91C>T (p.Leu31=)
NM_000203.5(IDUA):c.96G>T (p.Val32=)
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)
NM_134425.4(SLC26A1):c.576+4114G>A rs886059748

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