List of variants in gene IDUA reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_000203.5(IDUA):c.408C>T (p.Ala136=)	rs138195998	0.00081
NM_000203.5(IDUA):c.630C>T (p.Arg210=)	rs376012666	0.00017
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)	rs200237798	0.00016
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	rs121965025	0.00013
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00008
NM_000203.5(IDUA):c.1403-6C>G	rs764919689	0.00006
NM_000203.5(IDUA):c.1395C>T (p.Pro465=)	rs1324471292	0.00003
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	rs762903007	0.00001
NM_000203.5(IDUA):c.1509C>T (p.Arg503=)
NM_000203.5(IDUA):c.1674C>T (p.Pro558=)	rs767943753
NM_000203.5(IDUA):c.1782G>A (p.Pro594=)	rs781543137
NM_000203.5(IDUA):c.718C>G (p.His240Asp)

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