ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Myriad Women's Health, Inc.

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000155.4(GALT):c.253-2A>G rs111033661
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
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.855G>T (p.Lys285Asn) rs111033773
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000352.6(ABCC8):c.3989-9G>A rs151344623
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001467.6(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_138413.4(HOGA1):c.700+5G>T rs185803104
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360

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