ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis type 1 by Invitae

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
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.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00924
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00862
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000203.5(IDUA):c.299+7G>A rs200911718 0.00276
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00156
NM_000203.5(IDUA):c.1190-19G>C rs1285206431 0.00085
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
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.1403-14G>T rs368368416 0.00016
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00009
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000203.5(IDUA):c.1525-7C>A rs184807155 0.00001
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-11_1190-10dup rs150523349
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1727+21del
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.589+20dup
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.590-8del
NM_000203.5(IDUA):c.590-8dup
NM_000203.5(IDUA):c.99T>A (p.His33Gln)

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