ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000009.12:g.94620329_94620491del163 rs1563984164
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
NM_000152.5(GAA):c.1551+5G>A
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.2189+5_2189+8del
NM_000152.5(GAA):c.546+2_546+5del
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) rs1563983269
NM_000507.4(FBP1):c.426+1G>T rs1563983184
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434

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