ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Mendelics

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00006
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676 0.00001
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
NM_000642.3(AGL):c.1900-13T>A rs533280246
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile) rs1570487362
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992

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