ClinVar Miner

Variants in gene FH with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1456_1458del (p.Ala486del) rs2147911262
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553

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