ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinemia type II

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) rs761817519 0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) rs775488556 0.00001
NM_000353.3(TAT):c.235+1G>A rs748924248 0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) rs758306831 0.00001
NM_000353.3(TAT):c.889C>T (p.Arg297Ter) rs758491525 0.00001
NM_000353.3(TAT):c.912+1G>A rs2044196815 0.00001
NM_000353.3(TAT):c.916C>T (p.Arg306Ter) rs1316166172 0.00001
NM_000353.3(TAT):c.1015del (p.Tyr339fs)
NM_000353.3(TAT):c.1028_1029del (p.Leu343fs)
NM_000353.3(TAT):c.1037_1038del (p.Leu346fs)
NM_000353.3(TAT):c.1041+2T>C rs113758103
NM_000353.3(TAT):c.1041+2T>G
NM_000353.3(TAT):c.1042-2_1042del
NM_000353.3(TAT):c.1047del (p.Asn349fs) rs1555537673
NM_000353.3(TAT):c.1125+1G>T rs1555537662
NM_000353.3(TAT):c.1224G>T (p.Thr408=)
NM_000353.3(TAT):c.169C>T (p.Arg57Ter) rs118203914
NM_000353.3(TAT):c.177dup (p.Val60fs) rs1555538156
NM_000353.3(TAT):c.18_19del (p.Gln7fs)
NM_000353.3(TAT):c.1A>G (p.Met1Val) rs1426882225
NM_000353.3(TAT):c.226dup (p.Leu76fs) rs746077579
NM_000353.3(TAT):c.274_275del (p.Glu92fs)
NM_000353.3(TAT):c.283C>T (p.Gln95Ter)
NM_000353.3(TAT):c.313A>T (p.Lys105Ter)
NM_000353.3(TAT):c.340+2T>C rs1555538138
NM_000353.3(TAT):c.396_408+201del
NM_000353.3(TAT):c.440C>T (p.Ala147Val)
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr) rs1357257156
NM_000353.3(TAT):c.556T>C (p.Tyr186His) rs2145232912
NM_000353.3(TAT):c.568-2A>G rs1555537871
NM_000353.3(TAT):c.599_603del (p.Gln200fs)
NM_000353.3(TAT):c.632_634delinsA (p.Cys211fs)
NM_000353.3(TAT):c.680_692del (p.Lys227fs)
NM_000353.3(TAT):c.706+2T>C
NM_000353.3(TAT):c.707-1G>A rs1555537814
NM_000353.3(TAT):c.707-2A>G rs1005382525
NM_000353.3(TAT):c.759+1G>A rs2145232021
NM_000353.3(TAT):c.814del (p.Ile272fs) rs2044197900
NM_000353.3(TAT):c.825del (p.Cys275fs) rs2145231253
NM_000353.3(TAT):c.8dup (p.Tyr4fs)
NM_000353.3(TAT):c.906_912+12del rs1555537741

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