ClinVar Miner

List of variants in gene FH reported as likely pathogenic for Multiple cutaneous leiomyomas

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Total variants: 9
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HGVS dbSNP
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.3(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.3(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.3(FH):c.820G>C (p.Ala274Pro) rs1060499638

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