List of variants in gene FH reported as likely pathogenic by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	rs863224010	0.00001
NM_000143.4(FH):c.1469del (p.Gly490fs)	rs1060499645
NM_000143.4(FH):c.554A>G (p.Gln185Arg)	rs779707997
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)	rs1060499635
NM_000143.4(FH):c.698G>T (p.Arg233Leu)	rs121913123
NM_000143.4(FH):c.703C>G (p.His235Asp)	rs863223968
NM_000143.4(FH):c.731T>G (p.Leu244Arg)	rs1060499636
NM_000143.4(FH):c.820G>C (p.Ala274Pro)	rs1060499638

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