ClinVar Miner

List of variants in gene FH reported as benign by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000143.4(FH):c.306G>A (p.Ala102=) rs142283468 0.00028
NM_000143.4(FH):c.1237-7C>T rs376260223 0.00020
NM_000143.4(FH):c.739-10T>C rs201971572 0.00013
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00012
NM_000143.4(FH):c.6C>T (p.Tyr2=) rs199971078 0.00011
NM_000143.4(FH):c.270C>T (p.Thr90=) rs748852152 0.00002

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