ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (305):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371 0.00002
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) rs1444468055 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) rs1601780766
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs) rs766191969
NM_000642.3(AGL):c.24_25del (p.Ile9fs) rs1648909681
NM_001040716.2(PC):c.449_451dup (p.Gly150dup) rs1946724126
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) rs1057520545
NM_006516.4(SLC2A1):c.500del (p.Gly167fs)
NM_006516.4(SLC2A1):c.732del (p.Met244fs) rs1553156069
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913

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