ClinVar Miner

List of variants studied for carbohydrate metabolism disease by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.228_229insAGC (p.Ala77_Val78insSer)
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.692+17G>C rs199559553
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000175.5(GPI):c.-9A>G
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.122+20G>A rs8191360
NM_000175.5(GPI):c.1270-9G>A
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551
NM_000175.5(GPI):c.751-5dup
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139
NM_000175.5(GPI):c.948C>A (p.Ala316=)
NM_000289.6(PFKM):c.1063-6C>A
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1413-58C>A
NM_000289.6(PFKM):c.1500+32C>T rs41291967
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849
NM_000365.6(TPI1):c.544-10C>G rs115061797
NM_000365.6(TPI1):c.544-14G>A rs72661109
NM_000365.6(TPI1):c.631+13G>A rs60115912
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr)
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg) rs1800202
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399
NM_001365304.1(LOC112694756):c.*1320C>T rs111252736
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_184041.4(ALDOA):c.112+4C>T rs200278984
NM_184041.4(ALDOA):c.324+17C>G rs78209292
NM_184043.2(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_184043.2(ALDOA):c.999+17G>T rs2071390

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