ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_002863.5(PYGL):c.1620+1G>A rs113993981
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.4(HOGA1):c.834+1G>T rs749315029
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544

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