ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.50C>T (p.Ala17Val) rs111548093 0.00023
NM_000143.4(FH):c.1303G>A (p.Val435Met) rs147528200 0.00019
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000143.4(FH):c.-10C>T rs998842505 0.00006
NM_000143.4(FH):c.669A>G (p.Lys223=) rs1573883183 0.00001
NM_000143.4(FH):c.621G>A (p.Leu207=) rs1210947784

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