ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000147.4(FUCA1):c.433T>C (p.Trp145Arg) rs150062050
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664
NM_000352.5(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760
NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678
NM_000525.3(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745
NM_002863.5(PYGL):c.1828-9T>A rs372338710
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284
NM_005327.5(HADH):c.456G>T (p.Gln152His) rs1051519
NM_005327.5(HADH):c.643C>A (p.Pro215Thr) rs140413151
NM_005327.5(HADH):c.662G>A (p.Arg221His) rs76476980
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514
NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) rs200828053
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) rs1040190748
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) rs776883349
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974

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