ClinVar Miner

List of variants in gene FH reported as uncertain significance by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 10
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HGVS dbSNP
NM_000143.3(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.132+5G>T rs1060499627
NM_000143.3(FH):c.1424C>A (p.Ala475Glu) rs863224012
NM_000143.3(FH):c.1506dup (p.Pro503fs) rs886041202
NM_000143.3(FH):c.395T>C (p.Leu132Ser) rs1060499632
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003

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