ClinVar Miner

List of variants in gene IDUA reported as likely benign for Inborn genetic diseases

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Gene type:
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Total variants: 44
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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.1293C>T (p.Ala431=) rs559676638 0.00298
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
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.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.1031C>G (p.Ala344Gly) rs202191662 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.894C>T (p.Asp298=) rs1031564096 0.00006
NM_000203.5(IDUA):c.882C>T (p.Pro294=) rs762825338 0.00005
NM_000203.5(IDUA):c.1911G>A (p.Pro637=) rs780005721 0.00004
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp) rs779553529 0.00004
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=) rs372033248 0.00003
NM_000203.5(IDUA):c.510G>A (p.Ala170=) rs754039388 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.1758T>C (p.Ser586=) rs766308077 0.00001
NM_000203.5(IDUA):c.1269C>T (p.Ser423=) rs931627770
NM_000203.5(IDUA):c.1308C>A (p.Ala436=) rs2534093113
NM_000203.5(IDUA):c.1449C>T (p.Pro483=) rs761637332
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.1561G>A (p.Gly521Ser) rs1358581212
NM_000203.5(IDUA):c.1662C>G (p.Leu554=) rs1051037909
NM_000203.5(IDUA):c.1683A>G (p.Gln561=) rs1450965303
NM_000203.5(IDUA):c.1734G>A (p.Leu578=) rs769042694
NM_000203.5(IDUA):c.1782G>A (p.Pro594=) rs781543137
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.1929G>C (p.Val643=) rs147163995
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.727G>A (p.Asp243Asn) rs1460797649
NM_000203.5(IDUA):c.834C>A (p.Val278=) rs1308432668
NM_000203.5(IDUA):c.864C>T (p.Pro288=) rs1440415618
NM_000203.5(IDUA):c.924G>T (p.Leu308=)

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