List of variants reported as pathogenic for Fumarase deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.698G>A (p.Arg233His)	rs121913123	0.00003
NM_000143.4(FH):c.301C>T (p.Arg101Ter)	rs121913120	0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys)	rs587781682	0.00001
NM_000143.4(FH):c.268-2A>G	rs1064793741

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