ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756 0.79829
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081 0.00021
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648

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