ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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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 0.00380
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00033
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_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn) rs140985565 0.00006
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_001807.6(CEL):c.703C>T (p.Arg235Ter) rs778611627 0.00001
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr) rs1554486894 0.00001
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00001
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) rs1249398093
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) rs888909415
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000642.3(AGL):c.113C>G (p.Thr38Ser) rs1557746521
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_006721.4(ADK):c.813dup (p.Asn272fs) rs1589286482
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_017721.5(CC2D1A):c.748+1G>T rs876657679
NM_017755.6(NSUN2):c.1020del (p.Gly341fs) rs1579368865
NM_031229.4(RBCK1):c.461-2A>G rs2016220601
NM_175914.5(HNF4A):c.50-4560G>A rs1254732171

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