List of variants in gene IDUA reported as pathogenic for cardiovascular disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00008
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	rs121965031	0.00004
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	rs121965021	0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs)	rs727503967	0.00003
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)	rs776787370	0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)	rs756572099	0.00002
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	rs762903007	0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	rs772416503	0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	rs886043347	0.00001
NM_000203.5(IDUA):c.386-2A>G	rs777295041	0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	rs869025584	0.00001
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)	rs764196171
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	rs121965033
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)	rs121965024
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)	rs2153022399
NM_000203.5(IDUA):c.1163del (p.Thr388fs)	rs1577541504
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)	rs991612107
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)	rs1340421020
NM_000203.5(IDUA):c.1402+2T>G	rs1553917428
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)	rs2153022799
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	rs746936485
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	rs121965025
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	rs2153023287
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)	rs587779401
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)	rs1456090810
NM_000203.5(IDUA):c.300-4092_300-2318del
NM_000203.5(IDUA):c.385+1G>C	rs780615798
NM_000203.5(IDUA):c.494-1G>A	rs794727701
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)	rs776305028
NM_000203.5(IDUA):c.590-7G>A	rs762411583
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	rs1033313360
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)	rs875989947
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	rs786200915
NM_000203.5(IDUA):c.784del (p.His262fs)	rs757928590
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)	rs1715120049
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)	rs121965023

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