List of variants reported as uncertain significance for Hurler syndrome by Counsyl

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)	rs201268637	0.00009
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)	rs752337969	0.00006
NM_000203.5(IDUA):c.1728-9C>T	rs374775605	0.00005
NM_000203.5(IDUA):c.1727+4C>T	rs1202966289	0.00002
NM_000203.5(IDUA):c.946G>A (p.Val316Met)	rs755445369	0.00002
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)	rs750496798	0.00001
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)	rs1553917309	0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)	rs794727896	0.00001
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)	rs1465083754	0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)	rs780165694	0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro)	rs794727239	0.00001
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)	rs777698606	0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)	rs546933529	0.00001
NM_000203.5(IDUA):c.973-4G>A	rs745832717	0.00001
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)	rs370442463
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)	rs1214495121
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)	rs1553917304
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)	rs1553917310
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)	rs794727896
NM_000203.5(IDUA):c.1189+5G>A	rs1553917318
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del)	rs1450080299
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del)	rs1553917418
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)	rs1553917455
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)	rs1421520718
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)	rs1553917627
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)	rs121965031
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter)	rs768467230
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)	rs1553917764
NM_000203.5(IDUA):c.299+1212del	rs1553915188
NM_000203.5(IDUA):c.300-3C>G	rs1226056948
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)	rs1553914754
NM_000203.5(IDUA):c.399G>C (p.Met133Ile)	rs558683362
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)	rs1553916949
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)	rs1238128027
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)	rs770087890
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)	rs1553917091
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)	rs760582777
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)	rs764105238
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)	rs1001972534
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)	rs1553914780
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)	rs764800004
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)	rs1553917216
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)	rs121965030
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)	rs1553917253

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