ClinVar Miner

List of variants reported for Tyrosinemia type I by Counsyl

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.1195G>C (p.Asp399His) rs1449927772 0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.707-1G>A rs149052294 0.00002
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg) rs753539920 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.787G>A (p.Val263Met) rs1168279912 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) rs886044640 0.00001
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.4(FAH):c.1063-2A>G rs1555442385
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.4(FAH):c.1156G>C (p.Asp386His) rs1555442402
NM_000137.4(FAH):c.1181-1G>A rs1057516333
NM_000137.4(FAH):c.1258T>C (p.Ter420Arg) rs1057516631
NM_000137.4(FAH):c.1258T>G (p.Ter420Gly) rs1057516631
NM_000137.4(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.4(FAH):c.193-2A>G rs1555440522
NM_000137.4(FAH):c.298_300del (p.Thr100del) rs1555440545
NM_000137.4(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.4(FAH):c.314+1G>A rs1057516408
NM_000137.4(FAH):c.315-2A>G rs1555440603
NM_000137.4(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.4(FAH):c.455G>A (p.Trp152Ter) rs1057516679
NM_000137.4(FAH):c.456-2A>G rs1555441251
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.461_491del (p.His154fs) rs1057516684
NM_000137.4(FAH):c.492del (p.Ser165fs) rs1057517113
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.607-1G>A rs771712041
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.4(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.4(FAH):c.706+2T>G rs1555441597
NM_000137.4(FAH):c.707-7_707-5del rs779284513
NM_000137.4(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.4(FAH):c.780_781del (p.Pro261fs) rs1057517436
NM_000137.4(FAH):c.81+2T>C rs772895065
NM_000137.4(FAH):c.82-1G>A rs1247460110
NM_000137.4(FAH):c.835del (p.Gln279fs) rs1555441703
NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs) rs1555441852
NM_000137.4(FAH):c.885dup (p.Asp296Ter) rs1555441861
NM_000137.4(FAH):c.960+1G>A rs1057517201
NM_000137.4(FAH):c.961-2A>C rs1555442289
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168

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