List of variants reported as pathogenic for Tyrosinemia type I by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 91

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HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00028
NM_000137.4(FAH):c.554-1G>T	rs80338895	0.00010
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)	rs80338899	0.00009
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)	rs121965075	0.00008
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)	rs970505762	0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000137.4(FAH):c.1A>G (p.Met1Val)	rs1057517972	0.00003
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)	rs121965076	0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)	rs1297118863	0.00002
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.709C>T (p.Arg237Ter)	rs769550316	0.00002
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	rs779040832	0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His)	rs80338894	0.00001
NM_000137.4(FAH):c.233G>A (p.Trp78Ter)	rs1268482591	0.00001
NM_000137.4(FAH):c.315-3C>G	rs1171235203	0.00001
NM_000137.4(FAH):c.372C>A (p.Tyr124Ter)	rs1193030161	0.00001
NM_000137.4(FAH):c.3G>A (p.Met1Ile)	rs766882348	0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs)	rs779642226	0.00001
NM_000137.4(FAH):c.548_553+20del	rs768180953	0.00001
NM_000137.4(FAH):c.697G>A (p.Asp233Asn)	rs144902834	0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)	rs774861939	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.982C>T (p.Gln328Ter)	rs765134063	0.00001
NC_000015.10:g.(?_80177527)_(80186219_?)del
NC_000015.9:g.(?_80445385)_(80450748_?)del
NC_000015.9:g.(?_80445387)_(80445487_?)del
NC_000015.9:g.(?_80445387)_(80478561_?)del
NC_000015.9:g.(?_80445397)_(80460678_?)del
NC_000015.9:g.(?_80450392)_(80454688_?)del
NC_000015.9:g.(?_80452078)_(80460678_?)del
NC_000015.9:g.(?_80460384)_(80460668_?)del
NC_000015.9:g.(?_80464481)_(80478561_?)del
NC_000015.9:g.(?_80465346)_(80465496_?)del
NC_000015.9:g.(?_80473374)_(80478561_?)del
NM_000137.4(FAH):c.1014del (p.Gly337_Cys338insTer)
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)	rs970505762
NM_000137.4(FAH):c.1030del (p.Asp344fs)	rs747546798
NM_000137.4(FAH):c.1033del (p.Leu345fs)
NM_000137.4(FAH):c.1063-1G>A	rs2041326700
NM_000137.4(FAH):c.1063-2A>G	rs1555442385
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	rs121965077
NM_000137.4(FAH):c.1180+1G>A	rs980415517
NM_000137.4(FAH):c.1203C>A (p.Tyr401Ter)	rs2041368952
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)	rs2041114940
NM_000137.4(FAH):c.1235T>A (p.Val412Glu)	rs2142112670
NM_000137.4(FAH):c.14del (p.Pro5fs)	rs1057517341
NM_000137.4(FAH):c.191del (p.Gln64fs)	rs2142090831
NM_000137.4(FAH):c.192+1G>T	rs786204683
NM_000137.4(FAH):c.221del (p.Gly74fs)	rs2041131954
NM_000137.4(FAH):c.256C>T (p.Gln86Ter)
NM_000137.4(FAH):c.325del (p.Ser109fs)
NM_000137.4(FAH):c.328C>T (p.Gln110Ter)	rs754444882
NM_000137.4(FAH):c.354del (p.Ala119fs)	rs2041138762
NM_000137.4(FAH):c.379_380dup (p.Tyr128fs)
NM_000137.4(FAH):c.382_383insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCCTGACCTCGTGAACCGCCCGCCTCGCCGTCCGAACGAGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTACACAGACTTCT (p.Tyr128delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
NM_000137.4(FAH):c.38C>T (p.Pro13Leu)	rs2142086863
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)	rs1057516679
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	rs370686447
NM_000137.4(FAH):c.484del (p.Arg162fs)	rs2142097906
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	rs781496816
NM_000137.4(FAH):c.535_536del (p.Gln179fs)	rs2041210282
NM_000137.4(FAH):c.608del (p.Ala203fs)
NM_000137.4(FAH):c.615del (p.Phe205fs)	rs1057517084
NM_000137.4(FAH):c.615dup (p.Val206fs)	rs1057517084
NM_000137.4(FAH):c.667G>T (p.Glu223Ter)	rs2142101007
NM_000137.4(FAH):c.700T>G (p.Trp234Gly)	rs1555441595
NM_000137.4(FAH):c.701G>A (p.Trp234Ter)
NM_000137.4(FAH):c.702G>A (p.Trp234Ter)	rs765527687
NM_000137.4(FAH):c.707-1G>C	rs149052294
NM_000137.4(FAH):c.721A>T (p.Lys241Ter)	rs2142101647
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)	rs1567118987
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
NM_000137.4(FAH):c.744del (p.Pro249fs)	rs750741137
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
NM_000137.4(FAH):c.808dup (p.Met270fs)
NM_000137.4(FAH):c.839del (p.Asp280fs)
NM_000137.4(FAH):c.843del (p.Arg282fs)
NM_000137.4(FAH):c.860del (p.Leu287fs)	rs2142103306
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
NM_000137.4(FAH):c.910A>T (p.Lys304Ter)	rs2041271608
NM_000137.4(FAH):c.932del (p.Ala311fs)	rs2142105509
NM_000137.4(FAH):c.963C>G (p.Tyr321Ter)
NM_000137.4(FAH):c.96dup (p.Gly33fs)	rs2142090708
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)	rs2041316956
NM_000137.4(FAH):c.974C>T (p.Thr325Met)	rs770713168
NM_000137.4(FAH):c.978dup (p.Leu327fs)	rs1595897321

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