ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (161):
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ClinVar version:
Total variants: 38
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HGVS dbSNP
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.4(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
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.692C>G (p.Thr231Arg) rs1272572107
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.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) rs1601780766
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000642.3(AGL):c.24_25del (p.Ile9fs)
NM_001040716.2(PC):c.449_451dup (p.Gly150dup)
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001164279.2(SLC37A4):c.-172+132C>A rs1444468055
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525
NM_006516.3(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.3(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer) rs1570590905
NM_006516.3(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.3(SLC2A1):c.732del (p.Met244fs) rs1553156069
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371
NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter) rs1575614945
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764

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