List of variants in gene IDUA reported as likely pathogenic for Hurler syndrome

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: 51

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.793-1G>A	rs762779421	0.00004
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)	rs772416503	0.00003
NM_000203.5(IDUA):c.1829-1G>A	rs745915863	0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	rs148789453	0.00002
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	rs754949360	0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)	rs794727896	0.00001
NM_000203.5(IDUA):c.1190-2A>T	rs994902207	0.00001
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)	rs761793564	0.00001
NM_000203.5(IDUA):c.1828+1G>C	rs919151683	0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	rs200448421	0.00001
NM_000203.5(IDUA):c.589+1G>A	rs1293215555	0.00001
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)	rs1430681871	0.00001
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)	rs764196171
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)	rs746766617
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)	rs1230096882
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	rs121965032
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)	rs1445719596
NM_000203.5(IDUA):c.1402+1G>A	rs398123254
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000203.5(IDUA):c.1524+1G>T	rs1553917483
NM_000203.5(IDUA):c.1591del (p.Arg531fs)	rs1553917558
NM_000203.5(IDUA):c.1602del (p.Leu535fs)	rs1553917566
NM_000203.5(IDUA):c.1650+1G>A	rs1434521185
NM_000203.5(IDUA):c.1650+2C>G	rs1553917580
NM_000203.5(IDUA):c.1650+5G>A	rs398123256
NM_000203.5(IDUA):c.1728-2A>G	rs1553917699
NM_000203.5(IDUA):c.1829-2A>G	rs1553917733
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs)	rs1553917735
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)	rs1553917737
NM_000203.5(IDUA):c.1867del (p.Leu623fs)	rs1553917747
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)	rs1553917746
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)	rs2153023301
NM_000203.5(IDUA):c.1893del (p.Phe632fs)	rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs)	rs1553917756
NM_000203.5(IDUA):c.300-1G>A	rs1553916890
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)	rs2153021634
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
NM_000203.5(IDUA):c.390del (p.Phe130fs)	rs1560545883
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)	rs774605197
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)	rs1553916950
NM_000203.5(IDUA):c.493+1G>A	rs1553916957
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)	rs875989946
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	rs776098539
NM_000203.5(IDUA):c.542dup (p.Asn181fs)	rs1553917044
NM_000203.5(IDUA):c.589+1G>T	rs1293215555
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)	rs2153021926
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)	rs1553917192
NM_000203.5(IDUA):c.876del (p.Asp292fs)	rs1553917209
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)	rs779762183
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)	rs781534097

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