List of variants reported as likely benign for Mucopolysaccharidosis type 1 by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1727+75G>T	rs2305489	0.04671
NM_000203.5(IDUA):c.1293C>T (p.Ala431=)	rs559676638	0.00298
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)	rs148946496	0.00289
NM_000203.5(IDUA):c.493+10C>T	rs200000194	0.00156
NM_000203.5(IDUA):c.408C>T (p.Ala136=)	rs138195998	0.00081
NM_000203.5(IDUA):c.234C>T (p.Gly78=)	rs138932617	0.00078
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	rs180984980	0.00062
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)	rs545473192	0.00020
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	rs746809894	0.00011
NM_000203.5(IDUA):c.405C>T (p.Ser135=)	rs201326626	0.00009
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.1800G>A (p.Ser600=)	rs763047621	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.30G>A (p.Leu10=)	rs549738466	0.00004
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=)	rs370257928	0.00003
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)	rs372033248	0.00003
NM_000203.5(IDUA):c.1224C>T (p.Ala408=)	rs774488302	0.00002
NM_000203.5(IDUA):c.42G>C (p.Leu14=)	rs1021970063	0.00002
NM_000203.5(IDUA):c.1056C>T (p.Phe352=)	rs776110061	0.00001
NM_000203.5(IDUA):c.1536C>T (p.Ala512=)	rs1392263774	0.00001
NM_000203.5(IDUA):c.162C>A (p.Pro54=)	rs1378930636	0.00001
NM_000203.5(IDUA):c.534G>A (p.Glu178=)	rs762533612	0.00001
NM_000203.5(IDUA):c.693C>T (p.Ser231=)	rs529773032	0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)	rs546933529	0.00001
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)	rs761637332
NM_000203.5(IDUA):c.1479C>G (p.Pro493=)	rs370394527
NM_000203.5(IDUA):c.1651-10C>T	rs548878643
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)	rs372137794
NM_000203.5(IDUA):c.590-8C>G	rs6848974
NM_000203.5(IDUA):c.675C>T (p.Phe225=)	rs767436466
NM_000203.5(IDUA):c.793-9C>T	rs375798875

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