List of variants reported for Tyrosinemia type II by Counsyl

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000353.3(TAT):c.-12-1G>A	rs777389158	0.00002
NM_000353.3(TAT):c.340G>A (p.Gly114Ser)	rs759311161	0.00002
NM_000353.3(TAT):c.1223C>T (p.Thr408Met)	rs200815080	0.00001
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter)	rs118203916	0.00001
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln)	rs757879229	0.00001
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.1041+2T>C	rs113758103
NM_000353.3(TAT):c.1047del (p.Asn349fs)	rs1555537673
NM_000353.3(TAT):c.1125+1G>T	rs1555537662
NM_000353.3(TAT):c.1224G>A (p.Thr408=)	rs756743947
NM_000353.3(TAT):c.1363T>C (p.Ter455Gln)	rs1018491678
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)	rs118203914
NM_000353.3(TAT):c.177dup (p.Val60fs)	rs1555538156
NM_000353.3(TAT):c.1A>G (p.Met1Val)	rs1426882225
NM_000353.3(TAT):c.226dup (p.Leu76fs)	rs746077579
NM_000353.3(TAT):c.340+2T>C	rs1555538138
NM_000353.3(TAT):c.568-2A>G	rs1555537871
NM_000353.3(TAT):c.707-1G>A	rs1555537814
NM_000353.3(TAT):c.906_912+12del	rs1555537741

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