List of variants in gene combination IDUA, SLC26A1 reported as likely pathogenic for Mucopolysaccharidosis type 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)	rs794727240	0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)	rs780165694	0.00001
NM_000203.5(IDUA):c.299+1G>T	rs398123259	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del)	rs1713799705
NM_000203.5(IDUA):c.159-1G>A	rs1553914935
NM_000203.5(IDUA):c.159-2A>C	rs2153015588
NM_000203.5(IDUA):c.159-2A>G	rs2153015588
NM_000203.5(IDUA):c.224C>T (p.Ala75Val)	rs1315260083
NM_000203.5(IDUA):c.299_299+1delinsAT	rs2153015709
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	rs1553914740
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)	rs1553914762
NM_000203.5(IDUA):c.65del (p.Pro22fs)	rs1560531755

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