ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000298.6(PKLR):c.1269+43T>C rs8177982
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832
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_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_003051.3(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177

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