ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (161):
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Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.2159+2T>G rs1553775177
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_004130.4(GYG1):c.7+1G>A rs949456055
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_013995.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_013995.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_021957.4(GYS2):c.1081del (p.Thr361fs) rs771205749
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419

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