List of variants in gene FH studied for Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer

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: 59

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.53C>T (p.Pro18Leu)	rs201887750	0.00597
NM_000143.4(FH):c.1236+14C>T	rs149241949	0.00157
NM_000143.4(FH):c.77C>T (p.Pro26Leu)	rs187226800	0.00051
NM_000143.4(FH):c.1303G>A (p.Val435Met)	rs147528200	0.00021
NM_000143.4(FH):c.217G>A (p.Val73Met)	rs201878591	0.00010
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
NM_000143.4(FH):c.556-4A>G	rs370229813	0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	rs587782215	0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala)	rs147991516	0.00004
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000143.4(FH):c.616G>A (p.Val206Ile)	rs763183520	0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His)	rs121913123	0.00003
NM_000143.4(FH):c.1049G>A (p.Arg350Gln)	rs749316923	0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp)	rs200738857	0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu)	rs756528378	0.00002
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.1259C>T (p.Ala420Val)	rs766377516	0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp)	rs778678782	0.00001
NM_000143.4(FH):c.193G>A (p.Asp65Asn)	rs769956664	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val)	rs776806414	0.00001
NM_000143.4(FH):c.292A>G (p.Ile98Val)	rs1660147766	0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala)	rs372505976	0.00001
NM_000143.4(FH):c.776T>C (p.Met259Thr)	rs1407485828	0.00001
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	rs121913122
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	rs756469140
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA
NM_000143.4(FH):c.1237-50TC[27]	rs144131869
NM_000143.4(FH):c.127C>T (p.Arg43Ter)	rs200496951
NM_000143.4(FH):c.133G>T (p.Ala45Ser)	rs1260007300
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.1508C>G (p.Pro503Arg)	rs1659661748
NM_000143.4(FH):c.194A>T (p.Asp65Val)	rs145116688
NM_000143.4(FH):c.1A>C (p.Met1Leu)	rs776806414
NM_000143.4(FH):c.251T>C (p.Val84Ala)	rs878853692
NM_000143.4(FH):c.254C>G (p.Thr85Arg)	rs1324632356
NM_000143.4(FH):c.320A>C (p.Asn107Thr)	rs121913121
NM_000143.4(FH):c.354T>G (p.Asn118Lys)	rs1465574376
NM_000143.4(FH):c.378+11A>G
NM_000143.4(FH):c.37C>G (p.Pro13Ala)	rs587778360
NM_000143.4(FH):c.382G>A (p.Ala128Thr)	rs1553341620
NM_000143.4(FH):c.40del (p.Leu14fs)
NM_000143.4(FH):c.40dup (p.Leu14fs)	rs1060500900
NM_000143.4(FH):c.47G>A (p.Arg16Gln)
NM_000143.4(FH):c.526C>T (p.His176Tyr)
NM_000143.4(FH):c.555+5G>C	rs1553341582
NM_000143.4(FH):c.578C>T (p.Thr193Ile)	rs1573883332
NM_000143.4(FH):c.593C>G (p.Ala198Gly)	rs1414507017
NM_000143.4(FH):c.593del (p.Ala198fs)
NM_000143.4(FH):c.648T>G (p.Asp216Glu)	rs199536615
NM_000143.4(FH):c.707C>T (p.Thr236Ile)	rs773382103
NM_000143.4(FH):c.739-2A>G	rs1553341174
NM_000143.4(FH):c.800C>G (p.Pro267Arg)
NM_000143.4(FH):c.904+1G>A	rs1553341148
NM_000143.4(FH):c.904+2T>C
NM_000143.4(FH):c.907T>G (p.Leu303Val)	rs1057523697
NM_000143.4(FH):c.952C>T (p.His318Tyr)	rs398123168
NM_000143.4(FH):c.958G>T (p.Ala320Ser)	rs766441385

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