ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.104-2A>C rs2089505773
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1466del (p.Gly489fs) rs2123994190
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.152_236del (p.Leu51fs) rs2124065699
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) rs141088021
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) rs2089503778
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.419-2A>G rs2089476206
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.474del (p.His159fs) rs2124055341
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.57del (p.Val20fs) rs2124069318
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.886dup (p.Ile296fs) rs2124020896
NM_000202.8(IDS):c.895dup (p.Ser299fs) rs2124020775
NM_000202.8(IDS):c.955del (p.Asp319fs) rs2124020278
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) rs1555014957
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs) rs2131321455

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