ClinVar Miner

List of variants in gene IDUA, SLC26A1 studied for Hurler syndrome

Included ClinVar conditions (2):
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_022042.4(SLC26A1):c.-27-209T>C rs3822020 0.66105
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer) rs778770773 0.00010
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys) rs387907483 0.00003
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 0.00001
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met) rs387907484 0.00001
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter) rs941971930 0.00001
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter) rs1162410484 0.00001
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs) rs758100654 0.00001
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup) rs778682733 0.00001
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr) rs760075470 0.00001
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser) rs387907486 0.00001
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter) rs2153015621
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla) rs1553914754
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs) rs768949918
NM_022042.4(SLC26A1):c.139del (p.Arg47fs) rs1553915793
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs) rs1553915253
NM_022042.4(SLC26A1):c.154del (p.Asp52fs) rs1553915784
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs) rs1553915228
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs) rs1265696919
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs) rs1265696919
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr) rs387907481
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del) rs1553915189
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs) rs1372086275
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs) rs1553915192
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter) rs200798328
NM_022042.4(SLC26A1):c.1778del (p.Leu593fs) rs1553915188
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer) rs1553915173
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs) rs1553915155
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs) rs1553915149
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter) rs752252231
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter) rs1553915726
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs) rs1553915711
NM_022042.4(SLC26A1):c.347del (p.Gly116fs) rs756881822

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