ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Nilou-Genome Lab

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000035.4(ALDOB):c.*12C>T rs201867948
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.*91G>A rs2229221
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1438-108G>A
NM_000152.5(GAA):c.1438-19G>C rs2304844
NM_000152.5(GAA):c.1551+49C>A rs2304843
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1637-185A>G
NM_000152.5(GAA):c.1754+104C>G
NM_000152.5(GAA):c.1754+144C>T
NM_000152.5(GAA):c.1888+21G>A rs2304837
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.2040+66C>T
NM_000152.5(GAA):c.2040+69A>G rs2304834
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2189+95C>T
NM_000152.5(GAA):c.2331+20G>A rs2304832
NM_000152.5(GAA):c.2331+24T>C rs2304831
NM_000152.5(GAA):c.2331+48C>A
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2647-71G>C
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.547-39T>G rs12452721
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.693-49C>T rs78855075
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro)
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_000528.4(MAN2B1):c.2267+63A>G rs3815914
NM_000528.4(MAN2B1):c.2665-165G>C
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.910-73A>G rs2303731
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_001164277.1(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699
NM_001352514.2(HLCS):c.*40A>G rs77014096
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1438-36G>A rs2073425
NM_001352514.2(HLCS):c.1893-46G>T rs2073421
NM_001352514.2(HLCS):c.1960+117A>T
NM_001352514.2(HLCS):c.2122-30G>A rs2073420
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988

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