ClinVar Miner

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

Included ClinVar conditions (161):
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ClinVar version:
Total variants: 39
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HGVS dbSNP
NC_000001.10:g.100330092T>A rs794729208
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252
NM_000352.5(ABCC8):c.2041-21G>A rs746714109
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_006516.3(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060

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