ClinVar Miner

List of variants in gene FH reported as uncertain significance by Biesecker Lab/Human Development Section,National Institutes of Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.346A>T (p.Ile116Phe) rs201532589
NM_000143.3(FH):c.883G>A (p.Ala295Thr) rs145843819
NM_000143.3(FH):c.908T>C (p.Leu303Ser) rs201502246

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