ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as likely pathogenic for Mucopolysaccharidosis, MPS-II

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Gene type:
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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000202.8(IDS):c.748G>A (p.Ala250Thr) rs782613338 0.00001
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179 0.00001
NM_000202.8(IDS):c.1000G>T (p.Asp334Tyr)
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) rs2089378583
NM_000202.8(IDS):c.1001A>T (p.Asp334Val)
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1004A>G (p.His335Arg) rs2520811436
NM_000202.8(IDS):c.1004A>T (p.His335Leu)
NM_000202.8(IDS):c.1006+5G>C
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1006_1006+1delinsTT
NM_000202.8(IDS):c.1007-133A>G rs2124007227
NM_000202.8(IDS):c.1007-8T>G rs797044782
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu) rs2520785646
NM_000202.8(IDS):c.1008_1019del
NM_000202.8(IDS):c.1012G>C (p.Ala338Pro) rs2520785587
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys) rs2124006380
NM_000202.8(IDS):c.1024C>T (p.His342Tyr) rs2089343220
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.1025A>G (p.His342Arg)
NM_000202.8(IDS):c.1025A>T (p.His342Leu)
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu) rs2089343063
NM_000202.8(IDS):c.1028G>T (p.Gly343Val)
NM_000202.8(IDS):c.1030G>A (p.Glu344Lys)
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser) rs2089342988
NM_000202.8(IDS):c.1034G>T (p.Trp345Leu)
NM_000202.8(IDS):c.1035G>C (p.Trp345Cys)
NM_000202.8(IDS):c.1035G>T (p.Trp345Cys) rs2520785058
NM_000202.8(IDS):c.1036G>A (p.Ala346Thr)
NM_000202.8(IDS):c.1037C>A (p.Ala346Asp)
NM_000202.8(IDS):c.1040A>C (p.Lys347Thr)
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) rs2089342939
NM_000202.8(IDS):c.1042T>C (p.Tyr348His)
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.1048A>C (p.Asn350His)
NM_000202.8(IDS):c.1048A>T (p.Asn350Tyr)
NM_000202.8(IDS):c.1050T>G (p.Asn350Lys)
NM_000202.8(IDS):c.1063dup (p.Thr355fs)
NM_000202.8(IDS):c.1073C>G (p.Pro358Arg)
NM_000202.8(IDS):c.1077del (p.Ile360fs)
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer) rs2124006012
NM_000202.8(IDS):c.1092T>A (p.Pro364=)
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.1112del (p.Pro371fs)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1134_1152dup (p.Asp385delinsProLeuProArgProPheTer)
NM_000202.8(IDS):c.1142T>C (p.Leu381Pro)
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000202.8(IDS):c.1148del (p.Pro383fs) rs797044502
NM_000202.8(IDS):c.1170del (p.Met391fs) rs2520782845
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.425C>T (p.Ser142Phe)
NM_000202.8(IDS):c.428C>T (p.Ser143Phe)
NM_000202.8(IDS):c.442G>A (p.Asp148Asn)
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.448_471del (p.Pro150_Pro157del)
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.455G>A (p.Ser152Asn) rs193302914
NM_000202.8(IDS):c.463T>C (p.Phe155Leu)
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.476A>C (p.His159Pro)
NM_000202.8(IDS):c.479C>A (p.Pro160His) rs104894856
NM_000202.8(IDS):c.484T>C (p.Ser162Pro)
NM_000202.8(IDS):c.511T>C (p.Cys171Arg)
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.542A>T (p.Asn181Ile)
NM_000202.8(IDS):c.545T>C (p.Leu182Pro)
NM_000202.8(IDS):c.560A>T (p.Asp187Val)
NM_000202.8(IDS):c.587T>C (p.Leu196Ser) rs398123250
NM_000202.8(IDS):c.590C>G (p.Pro197Arg)
NM_000202.8(IDS):c.590C>T (p.Pro197Leu) rs2089451912
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.593A>G (p.Asp198Gly)
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.597_608del (p.Ser201_Gln204del)
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.629A>G (p.Glu210Gly)
NM_000202.8(IDS):c.631A>T (p.Lys211Ter) rs2520863392
NM_000202.8(IDS):c.636del (p.Met212fs) rs2520863301
NM_000202.8(IDS):c.641C>G (p.Thr214Arg)
NM_000202.8(IDS):c.662T>C (p.Leu221Pro)
NM_000202.8(IDS):c.668T>A (p.Val223Asp)
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
NM_000202.8(IDS):c.671G>C (p.Gly224Ala) rs2520862765
NM_000202.8(IDS):c.671_672del (p.Gly224fs) rs2520862741
NM_000202.8(IDS):c.673T>G (p.Tyr225Asp)
NM_000202.8(IDS):c.676C>G (p.His226Asp)
NM_000202.8(IDS):c.676_678dup (p.His226_Lys227insHis)
NM_000202.8(IDS):c.679A>C (p.Lys227Gln)
NM_000202.8(IDS):c.679A>G (p.Lys227Glu)
NM_000202.8(IDS):c.680A>T (p.Lys227Met)
NM_000202.8(IDS):c.682C>A (p.Pro228Thr)
NM_000202.8(IDS):c.682C>G (p.Pro228Ala)
NM_000202.8(IDS):c.682C>T (p.Pro228Ser)
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.685C>T (p.His229Tyr) rs2520862570
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.692C>T (p.Pro231Leu) rs2089450305
NM_000202.8(IDS):c.695dup (p.Arg233fs) rs2520862364
NM_000202.8(IDS):c.696_697del (p.Phe232fs) rs2520862342
NM_000202.8(IDS):c.697A>G (p.Arg233Gly)
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.708+2T>G
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.708G>C (p.Lys236Asn)
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.709-2A>G
NM_000202.8(IDS):c.709-2A>T
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.741_743delinsTA (p.Leu249fs) rs2520852344
NM_000202.8(IDS):c.776T>C (p.Leu259Pro)
NM_000202.8(IDS):c.776T>G (p.Leu259Arg)
NM_000202.8(IDS):c.777dup (p.Pro260fs) rs2520851660
NM_000202.8(IDS):c.790T>A (p.Tyr264Asn)
NM_000202.8(IDS):c.794A>T (p.Asn265Ile) rs2520851150
NM_000202.8(IDS):c.795C>A (p.Asn265Lys) rs1207417919
NM_000202.8(IDS):c.795C>G (p.Asn265Lys)
NM_000202.8(IDS):c.796C>T (p.Pro266Ser)
NM_000202.8(IDS):c.801G>T (p.Trp267Cys) rs2124041510
NM_000202.8(IDS):c.806A>C (p.Asp269Ala)
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899
NM_000202.8(IDS):c.823G>A (p.Asp275Asn) rs1803781
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr) rs1803781
NM_000202.8(IDS):c.826_834del (p.Val276_Ala278del)
NM_000202.8(IDS):c.841_873del (p.Ile281_Asp291del)
NM_000202.8(IDS):c.866C>T (p.Pro289Leu) rs2089436037
NM_000202.8(IDS):c.877C>T (p.Gln293Ter) rs2124041126
NM_000202.8(IDS):c.879G>A (p.Gln293=)
NM_000202.8(IDS):c.879G>C (p.Gln293His)
NM_000202.8(IDS):c.880-2_880-1delinsCC rs2520813885
NM_000202.8(IDS):c.880-8A>G
NM_000202.8(IDS):c.896G>T (p.Ser299Ile)
NM_000202.8(IDS):c.897C>G (p.Ser299Arg)
NM_000202.8(IDS):c.907T>C (p.Ser303Pro)
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.913T>C (p.Ser305Pro) rs2124020632
NM_000202.8(IDS):c.922G>C (p.Asp308His) rs2124020573
NM_000202.8(IDS):c.923A>G (p.Asp308Gly) rs2124020552
NM_000202.8(IDS):c.929A>C (p.Gln310Pro)
NM_000202.8(IDS):c.934G>T (p.Gly312Cys)
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.8(IDS):c.941T>A (p.Leu314His)
NM_000202.8(IDS):c.941T>C (p.Leu314Pro)
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000202.8(IDS):c.979A>C (p.Thr327Pro)
NM_000202.8(IDS):c.982_996del (p.Ile328_Thr332del) rs2124020031
NM_000202.8(IDS):c.998C>G (p.Ser333Trp) rs104894853

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