ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (161):
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ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000147.4(FUCA1):c.923G>A (p.Arg308His) rs372537257
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu) rs1553192908
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) rs757071897
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) rs201234013
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.655+6G>C rs779984246
NM_004130.3(GYG1):c.866G>T (p.Gly289Val) rs1553733613
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys) rs766896575
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp) rs138808270
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val) rs776037433
NM_014226.3(MOK):c.630_631dup (p.Ile211fs) rs769431982
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp) rs199906865
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del) rs1553621315
NM_152419.3(HGSNAT):c.235-9T>G rs913764481

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