List of variants in gene FH reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.7C>G (p.Arg3Gly)	rs202166344	0.00021
NM_000143.4(FH):c.217G>A (p.Val73Met)	rs201878591	0.00012
NM_000143.4(FH):c.35G>T (p.Arg12Leu)	rs367826177	0.00005
NM_000143.4(FH):c.994G>A (p.Ala332Thr)	rs1157768121	0.00005
NM_000143.4(FH):c.-3A>G	rs202145941	0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe)	rs201532589	0.00004
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.358A>G (p.Ile120Val)	rs199641124	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.655G>A (p.Asp219Asn)	rs11545656	0.00002
NM_000143.4(FH):c.1119C>T (p.Asn373=)	rs542014575	0.00001
NM_000143.4(FH):c.1390+5G>A	rs1352808353	0.00001
NM_000143.4(FH):c.193G>A (p.Asp65Asn)	rs769956664	0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val)	rs776806414	0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr)	rs587782207	0.00001
NM_000143.4(FH):c.227C>T (p.Thr76Met)	rs778578307	0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln)	rs1298815479	0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met)	rs200343823	0.00001
NM_000143.4(FH):c.784A>G (p.Ile262Val)	rs199829765	0.00001
NM_000143.4(FH):c.986A>G (p.Asn329Ser)	rs768483509	0.00001
NM_000143.4(FH):c.-9C>T
NM_000143.4(FH):c.1234A>T (p.Met412Leu)	rs2527316500
NM_000143.4(FH):c.1237-14_1237-5del	rs759012809
NM_000143.4(FH):c.1237-15CTCA[4]	rs750898743
NM_000143.4(FH):c.1325C>G (p.Thr442Arg)	rs1060500899
NM_000143.4(FH):c.1392G>T (p.Gly464=)	rs2147911364
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.166A>G (p.Thr56Ala)	rs1232573732
NM_000143.4(FH):c.240G>C (p.Lys80Asn)	rs1573888362
NM_000143.4(FH):c.37C>G (p.Pro13Ala)	rs587778360
NM_000143.4(FH):c.417G>A (p.Val139=)	rs768341401
NM_000143.4(FH):c.547A>G (p.Lys183Glu)	rs2147921763
NM_000143.4(FH):c.576C>G (p.Pro192=)	rs1413797947
NM_000143.4(FH):c.739-17TTTTC[2]	rs745617145
NM_000143.4(FH):c.74C>T (p.Ala25Val)	rs1573889933
NM_000143.4(FH):c.814C>A (p.Leu272Ile)	rs779019570
NM_000143.4(FH):c.995C>T (p.Ala332Val)	rs2147916201

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