ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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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.1004A>G (p.His335Arg)
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1006+1G>C
NM_000202.8(IDS):c.1006+1G>T rs869025308
NM_000202.8(IDS):c.1006+2T>G rs2089378420
NM_000202.8(IDS):c.1007-1G>A
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu) rs2089343063
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.1035G>T (p.Trp345Cys)
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1115del (p.Glu372fs) rs2124005776
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter) rs782634993
NM_000202.8(IDS):c.1129del (p.Leu377fs) rs2089341718
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) rs869025306
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter) rs2089341188
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter)
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.419-2A>G rs2089476206
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.458G>A (p.Trp153Ter) rs2124055460
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) rs869025304
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.474del (p.His159fs) rs2124055341
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.8(IDS):c.507+1G>A rs2124055167
NM_000202.8(IDS):c.507+2T>G rs2124055161
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.508-1G>C rs113993947
NM_000202.8(IDS):c.509_510del (p.Thr170fs) rs483352904
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr) rs2089452802
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)
NM_000202.8(IDS):c.589_592del (p.Pro197fs) rs1602742854
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.594_595del (p.Asp198fs) rs2124046923
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.610C>T (p.Gln204Ter) rs1557339532
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.8(IDS):c.613del (p.Ala205fs) rs2089451478
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del) rs2089451270
NM_000202.8(IDS):c.623T>A (p.Leu208Ter)
NM_000202.8(IDS):c.653_654del (p.Pro218fs) rs2089450982
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.686A>G (p.His229Arg)
NM_000202.8(IDS):c.687del (p.His229fs) rs2089450471
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.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.708+1G>T rs864622778
NM_000202.8(IDS):c.708+2T>C
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.715_721del (p.Gln239fs) rs2089438281
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) rs869025305
NM_000202.8(IDS):c.776_777dup (p.Pro260fs) rs2089437359
NM_000202.8(IDS):c.782del (p.Pro261fs)
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs) rs2089437147
NM_000202.8(IDS):c.795C>A (p.Asn265Lys) rs1207417919
NM_000202.8(IDS):c.800_801del (p.Trp267fs) rs2089436972
NM_000202.8(IDS):c.801dup (p.Met268fs) rs2089436936
NM_000202.8(IDS):c.814C>T (p.Gln272Ter) rs2089436689
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) rs2089436387
NM_000202.8(IDS):c.838_842del (p.Asn280fs) rs2089436271
NM_000202.8(IDS):c.867del (p.Val290fs)
NM_000202.8(IDS):c.880-2A>C
NM_000202.8(IDS):c.880-2A>G
NM_000202.8(IDS):c.880-2A>T
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.8(IDS):c.886dup (p.Ile296fs) rs2124020896
NM_000202.8(IDS):c.895dup (p.Ser299fs) rs2124020775
NM_000202.8(IDS):c.899_900del (p.Tyr300fs) rs2089380268
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.908_909del (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.8(IDS):c.955del (p.Asp319fs) rs2124020278
NM_000202.8(IDS):c.984del (p.Ile329fs) rs1602734459
NM_000202.8(IDS):c.998C>A (p.Ser333Ter) rs104894853
NM_000202.8(IDS):c.998C>G (p.Ser333Trp) rs104894853
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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