ClinVar Miner

List of variants in gene IDUA reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.300-246C>T rs3755957 0.24953
NM_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.21694
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17458
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.17199
NM_000203.5(IDUA):c.1727+72T>G rs2305488 0.17150
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.17147
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_000203.5(IDUA):c.493+205G>A rs3733342 0.16368
NM_000203.5(IDUA):c.1524+41G>T rs188458034 0.14873
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.1727+75G>T rs2305489 0.04661
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03215
NC_000004.12:g.1004654G>A rs114307088 0.02107
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00215
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1524+53G>T rs113289555
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.494-149C>G rs3733341
NM_000203.5(IDUA):c.494-198_494-179del rs3832289
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.973-45G>C rs6831021

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