List of variants in gene FH reported as pathogenic by GeneDx

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: 54

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
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.1020T>A (p.Asn340Lys)	rs398123159	0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	rs863224007	0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)	rs398123164	0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter)	rs121913120	0.00001
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)	rs768182640	0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys)	rs587781682	0.00001
NM_000143.3(FH):c.556_557delAG	rs1131691235
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	rs121913122
NM_000143.4(FH):c.1056dup (p.Leu353fs)	rs863224016
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)	rs727503927
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	rs863223966
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)	rs863224004
NM_000143.4(FH):c.1139_1142del (p.Met380fs)	rs863223988
NM_000143.4(FH):c.1263del (p.Arg421fs)	rs863223989
NM_000143.4(FH):c.1293del (p.Glu432fs)	rs398123163
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)	rs1553340686
NM_000143.4(FH):c.1349_1352del (p.Asn450fs)	rs863223990
NM_000143.4(FH):c.1357_1358del (p.Leu453fs)	rs863223991
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)	rs863223992
NM_000143.4(FH):c.1390+1G>T	rs886039367
NM_000143.4(FH):c.1391-1G>C	rs863223978
NM_000143.4(FH):c.1391-2A>T	rs863224008
NM_000143.4(FH):c.139C>T (p.Gln47Ter)	rs863223980
NM_000143.4(FH):c.1400dup (p.Ala468fs)	rs863223993
NM_000143.4(FH):c.140_147del (p.Gln47fs)	rs1573888556
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs)	rs863223994
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)	rs886041201
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)	rs886039368
NM_000143.4(FH):c.221dup (p.Ser75fs)	rs1553341951
NM_000143.4(FH):c.239dup (p.Ile81fs)	rs1553341942
NM_000143.4(FH):c.268-2A>G	rs1064793741
NM_000143.4(FH):c.295_301del (p.Leu99fs)	rs863224017
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)	rs876658569
NM_000143.4(FH):c.320A>C (p.Asn107Thr)	rs121913121
NM_000143.4(FH):c.349G>C (p.Ala117Pro)	rs886039363
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)	rs863223995
NM_000143.4(FH):c.439dup (p.Thr147fs)	rs1060499633
NM_000143.4(FH):c.443dup (p.Thr149fs)	rs1553341610
NM_000143.4(FH):c.668_669del (p.Lys223fs)	rs886039364
NM_000143.4(FH):c.675del (p.Phe225fs)	rs1553341337
NM_000143.4(FH):c.736C>T (p.Gln246Ter)	rs863223998
NM_000143.4(FH):c.738+2T>C	rs1060500901
NM_000143.4(FH):c.797dup (p.Met266fs)	rs863223981
NM_000143.4(FH):c.7C>T (p.Arg3Ter)	rs202166344
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)	rs863223985
NM_000143.4(FH):c.879del (p.Ala294fs)	rs1131691622
NM_000143.4(FH):c.912_918del (p.Phe305fs)	rs794727836
NM_000143.4(FH):c.937G>T (p.Glu313Ter)	rs863224001
NM_000143.4(FH):c.944_945del (p.Leu315fs)	rs886042044
NM_000143.4(FH):c.952C>T (p.His318Tyr)	rs398123168

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