List of variants in gene FH reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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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.927G>A (p.Pro309=)	rs61737760	0.02428
NM_000143.4(FH):c.648T>A (p.Asp216Glu)	rs199536615	0.00001
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)	rs797044974
NM_000143.4(FH):c.1237-50TC[18]	rs144131869
NM_000143.4(FH):c.1237-50TC[23]	rs144131869
NM_000143.4(FH):c.1237-50TC[25]	rs144131869
NM_000143.4(FH):c.1237-50TC[26]	rs144131869
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046

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