ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941 0.00001
NC_000009.12:g.94620330_94620492del rs1563984164
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
NM_000152.5(GAA):c.1551+5G>A rs2039217485
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2189+5_2189+8del rs2039293139
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
NM_000152.5(GAA):c.2481+1G>T
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000152.5(GAA):c.935del (p.Leu312fs)
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_000507.4(FBP1):c.426+1G>T rs1563983184
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp) rs200189510

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