ClinVar Miner

List of variants in gene FAH studied for not provided

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.961-223T>C rs2043692 0.88875
NM_000137.4(FAH):c.553+33A>G rs1545119 0.73027
NM_000137.4(FAH):c.838-196A>G rs11072883 0.72099
NM_000137.4(FAH):c.82-74T>C rs1370276 0.65071
NM_000137.4(FAH):c.961-35C>A rs2043691 0.61029
NM_000137.4(FAH):c.193-23T>C rs1370274 0.59414
NM_000137.4(FAH):c.914-316T>C rs10152142 0.50066
NM_000137.4(FAH):c.838-295C>T rs2278205 0.50018
NM_000137.4(FAH):c.707-107del rs58363292 0.49992
NM_000137.4(FAH):c.913+193G>T rs1863768 0.49971
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_000137.4(FAH):c.455+67T>C rs2114716 0.43155
NM_000137.4(FAH):c.706+202_706+203insAT rs3837742 0.30810
NM_000137.4(FAH):c.606+271G>A rs7166889 0.26591
NM_000137.4(FAH):c.960+115G>A rs2162550 0.25281
NM_000137.4(FAH):c.1181-210G>A rs12898575 0.12822
NM_000137.4(FAH):c.1181-204G>A rs12898576 0.12730
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_000137.4(FAH):c.1180+113T>C rs61128916 0.12174
NM_000137.4(FAH):c.193-85C>T rs35880073 0.07535
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.314+224C>G rs75782446 0.06977
NM_000137.3(FAH):c.*284C>G rs79203348 0.06789
NM_000137.4(FAH):c.1180+161A>G rs71397597 0.05519
NM_000137.4(FAH):c.913+156G>C rs79745256 0.05332
NM_000137.4(FAH):c.607-176T>C rs12439250 0.04587
NM_000137.4(FAH):c.456-267G>C rs112588563 0.04575
NM_000137.4(FAH):c.707-56G>A rs3752693 0.03999
NM_000137.4(FAH):c.1181-98C>T rs56793941 0.02685
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000137.4(FAH):c.192+212G>A rs16971784 0.01864
NM_000137.4(FAH):c.*88C>T rs113381157 0.01818
NM_000137.4(FAH):c.1063-274G>C rs116993568 0.01728
NM_000137.4(FAH):c.914-297A>G rs28562328 0.01693
NM_000137.4(FAH):c.707-122G>A rs112775316 0.01625
NM_000137.4(FAH):c.1180+83A>G rs148363797 0.01142
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_000137.4(FAH):c.1063-127C>A rs56104030 0.00692
NM_000137.4(FAH):c.192+109G>A rs11072882 0.00610
NM_000137.4(FAH):c.837+277G>A rs148725050 0.00528
NM_000137.4(FAH):c.838-50G>A rs116638928 0.00503
NM_000137.4(FAH):c.837+97G>A rs369462541 0.00471
NM_000137.4(FAH):c.707-63G>A rs191028698 0.00468
NM_000137.4(FAH):c.837+120C>T rs183545173 0.00332
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725 0.00053
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000137.4(FAH):c.462C>A (p.His154Gln) rs144234072 0.00038
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
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.150T>C (p.Phe50=) rs186471906 0.00016
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.1077C>T (p.Phe359=) rs145570259 0.00012
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
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.554-1G>T rs80338895 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 0.00006
NM_000137.4(FAH):c.302A>G (p.Glu101Gly) rs758347578 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys) rs780378868 0.00004
NM_000137.4(FAH):c.441G>A (p.Ala147=) rs141863249 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.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter) rs121965076 0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) rs1297118863 0.00002
NM_000137.4(FAH):c.620G>A (p.Gly207Asp) rs754196530 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000137.4(FAH):c.891C>T (p.Ile297=) rs1037374579 0.00002
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
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.192G>T (p.Gln64His) rs80338894 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.963C>A (p.Tyr321Ter) rs886044640 0.00001
GRCh37/hg19 15q25.1(chr15:80472308-80484049)x1
NM_000137.4(FAH):c.*38_*41del rs369845634
NM_000137.4(FAH):c.*45_*46insGTTT rs751787251
NM_000137.4(FAH):c.*51del rs200464452
NM_000137.4(FAH):c.1051A>G (p.Ile351Val) rs1490721679
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.4(FAH):c.1181-235C>T rs62006336
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.193-331_193-330del rs200674175
NM_000137.4(FAH):c.314+1G>A rs1057516408
NM_000137.4(FAH):c.365-109A>G rs114890326
NM_000137.4(FAH):c.455+5G>A
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.466C>T (p.Pro156Ser)
NM_000137.4(FAH):c.510C>T (p.Gly170=) rs1567117418
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.4(FAH):c.615dup (p.Val206fs) rs1057517084
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
NM_000137.4(FAH):c.81+1G>C
NM_000137.4(FAH):c.81+38dup rs60184934
NM_000137.4(FAH):c.81+39_81+57del rs554422109
NM_000137.4(FAH):c.816T>G (p.Phe272Leu) rs886286986
NM_000137.4(FAH):c.838-173del rs3835063
NM_000137.4(FAH):c.856T>A (p.Tyr286Asn)

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