List of variants in gene FH reported as pathogenic by Eurofins NTD LLC (GA)

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His)	rs121913123	0.00003
NM_000143.4(FH):c.560C>G (p.Ser187Ter)	rs398123166	0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys)	rs587781682	0.00001
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	rs121913122
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)	rs727503927
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)	rs398123160
NM_000143.4(FH):c.1200del (p.Asn400fs)	rs398123162
NM_000143.4(FH):c.1293del (p.Glu432fs)	rs398123163
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.1446_1449del (p.Glu484fs)	rs398123165
NM_000143.4(FH):c.320A>C (p.Asn107Thr)	rs121913121
NM_000143.4(FH):c.556-1G>C	rs794727698
NM_000143.4(FH):c.737del (p.Gln246fs)	rs727503928
NM_000143.4(FH):c.760C>T (p.Gln254Ter)	rs398123167
NM_000143.4(FH):c.912_918del (p.Phe305fs)	rs794727836
NM_000143.4(FH):c.952C>T (p.His318Tyr)	rs398123168

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