ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.158+1G>A rs1264013707 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.87del (p.His30fs) rs1193085446 0.00001
NC_000004.11:g.(?_980775)_(981040_?)del
NC_000004.11:g.(?_980775)_(981747_?)del
NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)
NM_000203.5(IDUA):c.-23_18del (p.Met1fs)
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)
NM_000203.5(IDUA):c.132del (p.Arg45fs) rs2153015244
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter) rs1713799895
NM_000203.5(IDUA):c.159-19_160del rs398123255
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter) rs758190824
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) rs1577508778
NM_000203.5(IDUA):c.175del (p.Ser59fs)
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) rs1577508801
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter) rs2153015621
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.19dup (p.Arg7fs)
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.1A>G (p.Met1Val) rs1553914737
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)
NM_000203.5(IDUA):c.209del (p.Gln70fs) rs2153015644
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.242dup (p.His82fs) rs1713866822
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)
NM_000203.5(IDUA):c.299+1G>C rs398123259
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter) rs567921262
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)

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