ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by 3billion

Included ClinVar conditions (302):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter) rs1957198348 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro) rs1565312540 0.00001
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) rs193922261
NM_000162.5(GCK):c.1251del (p.Ser418fs) rs2128819092
NM_000162.5(GCK):c.671T>C (p.Met224Thr) rs2128821476
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000203.5(IDUA):c.589+1G>T rs1293215555
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser) rs2153021926
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp) rs2147176072
NM_000284.4(PDHA1):c.46del (p.Ser16fs) rs2147168716
NM_000292.3(PHKA2):c.147C>A (p.Tyr49Ter) rs768063119
NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter) rs2147991282
NM_000292.3(PHKA2):c.717+1G>A
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu) rs121909741
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys) rs768831308
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.3753+1G>T
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs) rs2141262985
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_002294.3(LAMP2):c.183dup (p.Lys62Ter)
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.4(SLC2A1):c.680-3C>G rs112081052
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
NM_006765.4(TUSC3):c.568-2A>G rs2129179995
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
NM_018297.4(NGLY1):c.490dup (p.Thr164fs)
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs) rs2146989146
NM_175914.5(HNF4A):c.179G>T (p.Gly60Val) rs2146368271

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