ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinemia type I by Baylor Genetics

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
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.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.1190del (p.Gln397fs) rs786204551 0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs) rs779642226 0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg) rs774861939 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg) rs121965078 0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) rs886044640 0.00001
NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)
NM_000137.4(FAH):c.1028G>A (p.Gly343Glu)
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.115dup (p.Gln39fs)
NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs)
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.122T>C (p.Leu41Pro) rs2041114940
NM_000137.4(FAH):c.193-2A>G rs1555440522
NM_000137.4(FAH):c.205del (p.Ser69fs)
NM_000137.4(FAH):c.301G>T (p.Glu101Ter)
NM_000137.4(FAH):c.314+1G>A rs1057516408
NM_000137.4(FAH):c.314+1G>T
NM_000137.4(FAH):c.315-1G>A
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.509G>T (p.Gly170Val)
NM_000137.4(FAH):c.532G>T (p.Gly178Ter)
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.553+5G>A
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
NM_000137.4(FAH):c.606+1G>T
NM_000137.4(FAH):c.615dup (p.Val206fs) rs1057517084
NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)
NM_000137.4(FAH):c.706+2T>G rs1555441597
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
NM_000137.4(FAH):c.806_807dup (p.Met270fs)
NM_000137.4(FAH):c.838-2A>G
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
NM_000137.4(FAH):c.961-2A>C rs1555442289
NM_000137.4(FAH):c.961-2A>G

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