List of variants in gene FH reported as uncertain significance for 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 52

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HGVS	dbSNP	gnomAD frequency
NM_000143.3(FH):c.*266A>G	rs113667027	0.00037
NM_000143.4(FH):c.7C>G (p.Arg3Gly)	rs202166344	0.00022
NM_000143.4(FH):c.1303G>A (p.Val435Met)	rs147528200	0.00021
NM_000143.4(FH):c.1237-12A>T	rs74405673	0.00019
NM_000143.4(FH):c.*92G>T	rs202167168	0.00016
NM_000143.4(FH):c.217G>A (p.Val73Met)	rs201878591	0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=)	rs200542051	0.00010
NM_000143.4(FH):c.*102T>C	rs200093224	0.00009
NM_000143.4(FH):c.*211G>C	rs1385240800	0.00007
NM_000143.4(FH):c.12A>G (p.Ala4=)	rs201277370	0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	rs200796606	0.00005
NM_000143.4(FH):c.63C>T (p.Ala21=)	rs555404867	0.00005
NM_000143.4(FH):c.917T>C (p.Val306Ala)	rs147991516	0.00004
NM_000143.4(FH):c.305C>T (p.Ala102Val)	rs61753295	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000143.4(FH):c.358A>G (p.Ile120Val)	rs199641124	0.00002
NM_000143.4(FH):c.1109-7C>T	rs1060504079	0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu)	rs922905323	0.00001
NM_000143.4(FH):c.1443C>G (p.Thr481=)	rs780200136	0.00001
NM_000143.4(FH):c.1447A>C (p.Lys483Gln)	rs1017406473	0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp)	rs886046319	0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met)	rs200343823	0.00001
NM_000143.4(FH):c.41T>C (p.Leu14Pro)	rs1553342163	0.00001
NM_000143.4(FH):c.805A>G (p.Ile269Val)	rs377015873	0.00001
NM_000143.3(FH):c.-48G>T	rs886046320
NM_000143.4(FH):c.-14G>C	rs543556537
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)	rs1060499640
NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)	rs727503926
NM_000143.4(FH):c.1237-50TC[17]	rs144131869
NM_000143.4(FH):c.1237-50TC[18]	rs144131869
NM_000143.4(FH):c.1237-50TC[20]	rs144131869
NM_000143.4(FH):c.1237-50TC[21]	rs144131869
NM_000143.4(FH):c.1237-50TC[22]	rs144131869
NM_000143.4(FH):c.1237-50TC[23]	rs144131869
NM_000143.4(FH):c.1237-50TC[24]	rs144131869
NM_000143.4(FH):c.1237-50TC[25]	rs144131869
NM_000143.4(FH):c.1237-5_1237-4insCTCT	rs886046316
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT	rs1553340717
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)	rs201005880
NM_000143.4(FH):c.132+5G>T	rs1060499627
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)	rs863224012
NM_000143.4(FH):c.1506dup (p.Pro503fs)	rs886041202
NM_000143.4(FH):c.1A>C (p.Met1Leu)	rs776806414
NM_000143.4(FH):c.395T>C (p.Leu132Ser)	rs1060499632
NM_000143.4(FH):c.560C>T (p.Ser187Leu)	rs398123166
NM_000143.4(FH):c.574C>T (p.Pro192Ser)	rs1573883345
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)	rs863223985
NM_000143.4(FH):c.823G>C (p.Gly275Arg)	rs1060499639
NM_000143.4(FH):c.892G>C (p.Ala298Pro)	rs201395553
NM_000143.4(FH):c.905-5T>A	rs886046318
NM_000143.4(FH):c.965T>G (p.Val322Gly)	rs863224003

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