ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-III-D

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.1021_1022insTCTT (p.Arg341fs) rs1470760407 0.00001
NM_002076.4(GNS):c.355del (p.Ser119fs) rs749187018 0.00001
NM_002076.4(GNS):c.875+2del rs1219484230 0.00001
NC_000012.12:g.(?_64739371)_(64747928_?)del
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) rs119461974
NM_002076.4(GNS):c.1098+1G>A
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs) rs483352899
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) rs119461975
NM_002076.4(GNS):c.1169del (p.Gln390fs) rs483352898
NM_002076.4(GNS):c.118del (p.Val40fs) rs2136259376
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer) rs1869297835
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter)
NM_002076.4(GNS):c.1226dup (p.Ser410fs) rs483352900
NM_002076.4(GNS):c.1231dup (p.Asp411fs)
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter) rs2136237909
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter) rs2136237257
NM_002076.4(GNS):c.1414dup (p.Gln472fs)
NM_002076.4(GNS):c.1420-2A>G rs2136236649
NM_002076.4(GNS):c.1459C>T (p.Gln487Ter) rs2136236619
NM_002076.4(GNS):c.148dup (p.Val50fs) rs2136259310
NM_002076.4(GNS):c.214_220del (p.Ala72fs) rs759378094
NM_002076.4(GNS):c.23del (p.Pro8fs) rs2136259586
NM_002076.4(GNS):c.246del (p.Ser83fs)
NM_002076.4(GNS):c.255T>G (p.Tyr85Ter)
NM_002076.4(GNS):c.257_258del (p.Val86fs)
NM_002076.4(GNS):c.286_287del (p.Ala96fs)
NM_002076.4(GNS):c.320_326del (p.His107fs)
NM_002076.4(GNS):c.379del (p.Gln127fs) rs1869941124
NM_002076.4(GNS):c.386dup (p.Asn130fs) rs2136249878
NM_002076.4(GNS):c.400del (p.Ala134fs)
NM_002076.4(GNS):c.413C>A (p.Ser138Ter)
NM_002076.4(GNS):c.441del (p.Lys149fs)
NM_002076.4(GNS):c.459+1_459+2del rs2136249835
NM_002076.4(GNS):c.49dup (p.Arg17fs)
NM_002076.4(GNS):c.4del (p.Arg2fs) rs2136259630
NM_002076.4(GNS):c.506G>A (p.Trp169Ter) rs2136248862
NM_002076.4(GNS):c.526G>T (p.Glu176Ter) rs2136248430
NM_002076.4(GNS):c.538A>T (p.Lys180Ter) rs2136248422
NM_002076.4(GNS):c.59_66del (p.Pro20fs)
NM_002076.4(GNS):c.638del (p.Leu213fs) rs2136247658
NM_002076.4(GNS):c.654C>A (p.Tyr218Ter) rs2136247644
NM_002076.4(GNS):c.667G>T (p.Glu223Ter)
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
NM_002076.4(GNS):c.732C>A (p.Tyr244Ter) rs2136247574
NM_002076.4(GNS):c.732C>G (p.Tyr244Ter)
NM_002076.4(GNS):c.814C>T (p.Gln272Ter) rs1365770233
NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT (p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer) rs2136246147
NM_002076.4(GNS):c.875+1G>A rs1214781989
NM_002076.4(GNS):c.876-2A>G
NM_002076.4(GNS):c.887_888del (p.Leu296fs) rs2136245530
NM_002076.4(GNS):c.937dup (p.Thr313fs)
NM_002076.4(GNS):c.959dup (p.Tyr320Ter)
NM_002076.4(GNS):c.974C>G (p.Ser325Ter)

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