ClinVar Miner

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

Included ClinVar conditions (125):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NC_000009.12:g.94620330_94620492del rs1563984164
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

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