ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Natera, Inc.

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000203.5(IDUA):c.1829-1G>A rs745915863
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000642.3(AGL):c.293+1del rs777857395
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_002076.4(GNS):c.1308+2T>C
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589

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