ClinVar Miner

List of variants in gene IDUA studied for Inborn genetic diseases

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189 0.00057
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser) rs144941693 0.00024
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr) rs112571714 0.00015
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp) rs565375837 0.00011
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568 0.00010
NM_000203.5(IDUA):c.882C>T (p.Pro294=) rs762825338 0.00007
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000203.5(IDUA):c.765G>C (p.Arg255=) rs965929339 0.00006
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00004
NM_000203.5(IDUA):c.1911G>A (p.Pro637=) rs780005721 0.00004
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=) rs372033248 0.00003
NM_000203.5(IDUA):c.1587G>T (p.Ala529=) rs773184536 0.00002
NM_000203.5(IDUA):c.939G>A (p.Arg313=) rs540430727 0.00002
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) rs1553917309 0.00001
NM_000203.5(IDUA):c.1169T>C (p.Met390Thr) rs1157083700 0.00001
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile) rs200089576 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr)
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg)
NM_000203.5(IDUA):c.1269C>T (p.Ser423=) rs931627770
NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
NM_000203.5(IDUA):c.1308C>A (p.Ala436=)
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
NM_000203.5(IDUA):c.1340G>A (p.Arg447His)
NM_000203.5(IDUA):c.1351A>G (p.Asn451Asp)
NM_000203.5(IDUA):c.1364C>T (p.Ala455Val)
NM_000203.5(IDUA):c.1449C>T (p.Pro483=) rs761637332
NM_000203.5(IDUA):c.1450G>A (p.Asp484Asn)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1491G>A (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1491G>T (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg)
NM_000203.5(IDUA):c.1662C>G (p.Leu554=)
NM_000203.5(IDUA):c.1683A>G (p.Gln561=)
NM_000203.5(IDUA):c.1691T>C (p.Leu564Pro)
NM_000203.5(IDUA):c.1720G>C (p.Gly574Arg)
NM_000203.5(IDUA):c.1734G>A (p.Leu578=)
NM_000203.5(IDUA):c.1758T>C (p.Ser586=) rs766308077
NM_000203.5(IDUA):c.1782G>A (p.Pro594=) rs781543137
NM_000203.5(IDUA):c.1794G>C (p.Lys598Asn)
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1909C>G (p.Pro637Ala)
NM_000203.5(IDUA):c.1924C>T (p.Pro642Ser)
NM_000203.5(IDUA):c.1929G>C (p.Val643=)
NM_000203.5(IDUA):c.316G>A (p.Gly106Ser)
NM_000203.5(IDUA):c.347G>A (p.Gly116Glu)
NM_000203.5(IDUA):c.410C>G (p.Ser137Trp) rs769949390
NM_000203.5(IDUA):c.487T>C (p.Tyr163His)
NM_000203.5(IDUA):c.490A>G (p.Ile164Val)
NM_000203.5(IDUA):c.558C>T (p.His186=) rs1164118339
NM_000203.5(IDUA):c.618G>A (p.Ser206=) rs377312287
NM_000203.5(IDUA):c.663C>T (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.675C>T (p.Phe225=) rs767436466
NM_000203.5(IDUA):c.864C>T (p.Pro288=) rs1440415618
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)

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