List of variants studied for Hurler syndrome by Genome-Nilou Lab

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Total variants: 14

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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.299+3990A>G	rs3822020	0.66105
NM_000203.5(IDUA):c.352C>T (p.Leu118=)	rs3755954	0.22368
NM_000203.5(IDUA):c.1727+72T>G	rs2305488	0.17150
NM_000203.5(IDUA):c.1402+36T>C	rs115134980	0.17107
NM_000203.5(IDUA):c.972+48A>G	rs6811373	0.17097
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.942G>C (p.Ala314=)	rs6830825	0.16834
NM_000203.5(IDUA):c.891C>T (p.Asn297=)	rs114806891	0.04874
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	rs3755955
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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