ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinemia type I

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000137.2(FAH):c.553+2_553+3delTG rs1555441272
NM_000137.2(FAH):c.854_855ins11 (p.?) rs1555441852
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.3(FAH):c.1063-2A>G rs1555442385
NM_000137.3(FAH):c.1069G>T (p.Glu357Ter) rs121965075
NM_000137.3(FAH):c.1181-1G>A rs1057516333
NM_000137.3(FAH):c.1190del (p.Gln397fs) rs786204551
NM_000137.3(FAH):c.1210G>A (p.Gly404Ser) rs1297118863
NM_000137.3(FAH):c.1258T>C (p.Ter420Arg) rs1057516631
NM_000137.3(FAH):c.1258T>G (p.Ter420Gly) rs1057516631
NM_000137.3(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.193-2A>G rs1555440522
NM_000137.3(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.3(FAH):c.314+1G>A rs1057516408
NM_000137.3(FAH):c.315-2A>G rs1555440603
NM_000137.3(FAH):c.364+2T>G
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.3(FAH):c.438del (p.Asn146fs) rs779642226
NM_000137.3(FAH):c.455G>A (p.Trp152Ter) rs1057516679
NM_000137.3(FAH):c.456-2A>G rs1555441251
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.3(FAH):c.461_491del (p.His154fs) rs1057516684
NM_000137.3(FAH):c.492del (p.Ser165fs) rs1057517113
NM_000137.3(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.3(FAH):c.548_553+20del
NM_000137.3(FAH):c.607-1G>A rs771712041
NM_000137.3(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.3(FAH):c.696C>T (p.Asn232=) rs533540262
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.3(FAH):c.776_777TC[2] (p.Pro261fs) rs1057517436
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000137.3(FAH):c.81+2T>C rs772895065
NM_000137.3(FAH):c.82-1G>A rs1247460110
NM_000137.3(FAH):c.885dup (p.Asp296Ter) rs1555441861
NM_000137.3(FAH):c.960+1G>A rs1057517201
NM_000137.3(FAH):c.961-2A>C rs1555442289

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.