ClinVar Miner

List of variants in gene FH reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_000143.3(FH):c.1129T>C (p.Cys377Arg) rs398123161
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.695G>A (p.Gly232Glu) rs727503929
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553

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