ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Centogene AG - the Rare Disease Company

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr) rs202025962 0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) rs202166715 0.00003
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu) rs1176534322 0.00002
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met) rs1029565906 0.00001
NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile) rs1339133695 0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 0.00001
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr) rs780043187 0.00001
NC_000017.11:g.42910915_42911427del rs2056090806
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000046.5(ARSB):c.264G>T (p.Gln88His) rs750947605
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg) rs1639470403
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer) rs2056021430
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000203.5(IDUA):c.1190-10_*10del
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000352.6(ABCC8):c.526dup (p.Val176fs) rs1847952281
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.121-202A>G rs550044789
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000528.4(MAN2B1):c.1644+4A>G rs1218254964
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs) rs1204840140
NM_000642.3(AGL):c.2399dup (p.Asp801fs) rs1652268068
NM_000642.3(AGL):c.567dup (p.Arg190Ter) rs1650334882
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001715.3(BLK):c.956G>T (p.Cys319Phe) rs1563123027
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter) rs2055884613
NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys) rs2054403362
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_017755.6(NSUN2):c.1020del (p.Gly341fs) rs1579368865
NM_053013.4(ENO3):c.1194dup (p.Cys399fs) rs757440599
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570

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