ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Baylor Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000308.4(CTSA):c.601-2A>G rs778159802
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_005908.4(MANBA):c.177+2T>C

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