ClinVar Miner

List of variants reported as likely pathogenic by Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital

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Total variants: 6
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HGVS dbSNP
NC_000009.12:g.94620329_94620491del163 rs1563984164
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
NM_000475.5(NR0B1):c.1006dup (p.Val336fs)
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

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