ClinVar Miner

List of variants reported as uncertain significance for Tyrosinemia type I

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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
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.81+12G>A rs200319726 0.00048
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.747A>G (p.Pro249=) rs138757552 0.00022
NM_000137.4(FAH):c.-23A>C rs200127538 0.00019
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000137.2(FAH):c.-67C>A rs886051495 0.00014
NM_000137.4(FAH):c.-43G>T rs200704926 0.00014
NM_000137.4(FAH):c.-40C>G rs371100968 0.00013
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.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000137.4(FAH):c.864C>T (p.Cys288=) rs370273424 0.00012
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
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.1097C>T (p.Ser366Leu) rs372685249 0.00009
NM_000137.4(FAH):c.*138G>A rs374613273 0.00006
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.322A>G (p.Ile108Val) rs747942022 0.00004
NM_000137.4(FAH):c.484C>T (p.Arg162Cys) rs959533704 0.00004
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000137.4(FAH):c.978G>T (p.Met326Ile) rs374655382 0.00004
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln) rs903038605 0.00003
NM_000137.4(FAH):c.1029G>A (p.Gly343=) rs772334351 0.00003
NM_000137.4(FAH):c.10A>C (p.Ile4Leu) rs754336457 0.00003
NM_000137.4(FAH):c.1195G>C (p.Asp399His) rs1449927772 0.00003
NM_000137.4(FAH):c.82-3T>C rs368921640 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000137.4(FAH):c.*129T>C rs968507766 0.00002
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln) rs770665329 0.00002
NM_000137.4(FAH):c.341C>T (p.Thr114Met) rs772014160 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000137.4(FAH):c.567A>G (p.Val189=) rs750785945 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.89C>T (p.Pro30Leu) rs776178600 0.00002
NM_000137.3(FAH):c.*288G>A rs1488863066 0.00001
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr) rs376563006 0.00001
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser) rs779705179 0.00001
NM_000137.4(FAH):c.109G>A (p.Gly37Ser) rs761938144 0.00001
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg) rs753539920 0.00001
NM_000137.4(FAH):c.1180+10G>A rs758464032 0.00001
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu) rs1341466471 0.00001
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr) rs1595899559 0.00001
NM_000137.4(FAH):c.155G>A (p.Gly52Asp) rs780944655 0.00001
NM_000137.4(FAH):c.291A>C (p.Arg97Ser) rs754226189 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000137.4(FAH):c.407A>G (p.Asn136Ser) rs768365621 0.00001
NM_000137.4(FAH):c.437A>G (p.Asn146Ser) rs754012972 0.00001
NM_000137.4(FAH):c.692T>C (p.Met231Thr) rs772824887 0.00001
NM_000137.4(FAH):c.787G>A (p.Val263Met) rs1168279912 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NC_000015.9:g.(?_80403807)_(81274523_?)dup
NM_000137.2(FAH):c.-159C>G rs2041062775
NM_000137.2(FAH):c.-63C>A rs532122242
NM_000137.3(FAH):c.*317G>A rs886051499
NM_000137.4(FAH):c.*1G>A rs2041369631
NM_000137.4(FAH):c.1001C>T (p.Ser334Phe)
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu) rs143326948
NM_000137.4(FAH):c.1062G>A (p.Pro354=) rs767329352
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
NM_000137.4(FAH):c.1152G>T (p.Leu384=) rs886051497
NM_000137.4(FAH):c.1156G>C (p.Asp386His) rs1555442402
NM_000137.4(FAH):c.1181G>A (p.Gly394Glu)
NM_000137.4(FAH):c.1196A>C (p.Asp399Ala) rs2041368892
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His) rs1567123622
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
NM_000137.4(FAH):c.147C>G (p.Leu49=) rs886051496
NM_000137.4(FAH):c.167C>T (p.Ser56Phe) rs770312290
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.221_238del (p.Gly74_Lys79del)
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
NM_000137.4(FAH):c.23A>C (p.Glu8Ala) rs2041065243
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
NM_000137.4(FAH):c.272T>G (p.Val91Gly) rs1344024365
NM_000137.4(FAH):c.295G>A (p.Asp99Asn) rs1325951062
NM_000137.4(FAH):c.298_300del (p.Thr100del) rs1555440545
NM_000137.4(FAH):c.307C>T (p.Arg103Trp)
NM_000137.4(FAH):c.314+4A>G rs748750943
NM_000137.4(FAH):c.348C>A (p.His116Gln)
NM_000137.4(FAH):c.365-2_399dup
NM_000137.4(FAH):c.369C>A (p.Asp123Glu)
NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
NM_000137.4(FAH):c.452A>G (p.Asn151Ser) rs377283883
NM_000137.4(FAH):c.455+3A>G rs779426726
NM_000137.4(FAH):c.455+3A>T
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.485G>A (p.Arg162His)
NM_000137.4(FAH):c.494C>G (p.Ser165Cys) rs2142097922
NM_000137.4(FAH):c.496G>C (p.Val166Leu)
NM_000137.4(FAH):c.502G>A (p.Val168Met)
NM_000137.4(FAH):c.529A>G (p.Met177Val)
NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
NM_000137.4(FAH):c.532G>C (p.Gly178Arg) rs2041210221
NM_000137.4(FAH):c.542_553+4dup rs746554047
NM_000137.4(FAH):c.553+8A>G rs1447400619
NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
NM_000137.4(FAH):c.607-10C>G rs2041245977
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.607G>A (p.Ala203Thr) rs2041246142
NM_000137.4(FAH):c.615T>A (p.Phe205Leu) rs2041246277
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
NM_000137.4(FAH):c.645G>T (p.Pro215=) rs151221329
NM_000137.4(FAH):c.678T>G (p.Phe226Leu) rs2041247325
NM_000137.4(FAH):c.696C>A (p.Asn232Lys) rs533540262
NM_000137.4(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
NM_000137.4(FAH):c.707-7_707-5del rs779284513
NM_000137.4(FAH):c.710G>A (p.Arg237Gln) rs2041253905
NM_000137.4(FAH):c.740T>G (p.Leu247Arg)
NM_000137.4(FAH):c.775G>C (p.Val259Leu) rs2041254739
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
NM_000137.4(FAH):c.79G>C (p.Asp27His)
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
NM_000137.4(FAH):c.837+5G>A
NM_000137.4(FAH):c.837G>A (p.Gln279=)
NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
NM_000137.4(FAH):c.847C>A (p.Pro283Thr)
NM_000137.4(FAH):c.866A>G (p.His289Arg)
NM_000137.4(FAH):c.90G>C (p.Pro30=) rs202195651
NM_000137.4(FAH):c.932C>T (p.Ala311Val) rs529709868
NM_000137.4(FAH):c.940A>G (p.Ile314Val) rs2041295204
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
NM_000137.4(FAH):c.960+5G>A
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000137.4(FAH):c.977T>C (p.Met326Thr) rs2142107717
NM_000137.4(FAH):c.987G>T (p.Gln329His) rs2041317218
NM_000137.4(FAH):c.991A>G (p.Thr331Ala)

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