List of variants in gene FAH reported as uncertain significance by Eurofins NTD LLC (GA)

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.553+10C>T	rs201051426	0.00067
NM_000137.4(FAH):c.243G>A (p.Ala81=)	rs36122289	0.00041
NM_000137.4(FAH):c.409G>A (p.Val137Ile)	rs139268254	0.00027
NM_000137.4(FAH):c.831G>A (p.Pro277=)	rs372980573	0.00024
NM_000137.4(FAH):c.747A>G (p.Pro249=)	rs138757552	0.00022
NM_000137.4(FAH):c.583C>G (p.Leu195Val)	rs1002962662	0.00013
NM_000137.4(FAH):c.841C>A (p.Pro281Thr)	rs199820704	0.00013
NM_000137.4(FAH):c.864C>T (p.Cys288=)	rs370273424	0.00012
NM_000137.4(FAH):c.870C>T (p.Asp290=)	rs377480457	0.00011
NM_000137.4(FAH):c.412G>A (p.Gly138Arg)	rs143243347	0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=)	rs147016995	0.00010
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)	rs758347578	0.00006
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys)	rs780378868	0.00004
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln)	rs903038605	0.00003
NM_000137.4(FAH):c.133A>G (p.Ile45Val)	rs375743726	0.00003
NM_000137.4(FAH):c.620G>A (p.Gly207Asp)	rs754196530	0.00002
NM_000137.4(FAH):c.891C>T (p.Ile297=)	rs1037374579	0.00002
NM_000137.4(FAH):c.1057G>A (p.Gly353Arg)	rs895743403	0.00001
NM_000137.4(FAH):c.1079G>A (p.Gly360Asp)	rs148473414	0.00001
NM_000137.4(FAH):c.1109C>T (p.Thr370Met)	rs559050778	0.00001
NM_000137.4(FAH):c.141G>A (p.Lys47=)	rs1202678414	0.00001
NM_000137.4(FAH):c.237G>A (p.Lys79=)	rs1490117712	0.00001
NM_000137.4(FAH):c.242C>T (p.Ala81Val)	rs1338749273	0.00001
NM_000137.4(FAH):c.271G>A (p.Val91Met)	rs374371839	0.00001
NM_000137.4(FAH):c.300C>T (p.Thr100=)	rs567587933	0.00001
NM_000137.4(FAH):c.616G>A (p.Val206Ile)	rs766182736	0.00001
NM_000137.4(FAH):c.644C>T (p.Pro215Leu)	rs753155575	0.00001
NM_000137.4(FAH):c.772A>G (p.Thr258Ala)	rs766663540	0.00001
NM_000137.4(FAH):c.934G>A (p.Ala312Thr)	rs150606030	0.00001
NM_000137.4(FAH):c.1051A>G (p.Ile351Val)	rs1490721679
NM_000137.4(FAH):c.1195G>A (p.Asp399Asn)	rs1449927772
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)	rs1567123622
NM_000137.4(FAH):c.134T>C (p.Ile45Thr)	rs1567114346
NM_000137.4(FAH):c.510C>T (p.Gly170=)	rs1567117418
NM_000137.4(FAH):c.696C>A (p.Asn232Lys)	rs533540262
NM_000137.4(FAH):c.707-7_707-5del	rs779284513
NM_000137.4(FAH):c.707C>T (p.Ala236Val)	rs1567118972
NM_000137.4(FAH):c.771C>G (p.Thr257=)	rs1567119023

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