List of variants reported as likely benign for tyrosinemia type III 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: 228

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HGVS	dbSNP	gnomAD frequency
NM_002150.3(HPD):c.498G>A (p.Met166Ile)	rs149081239	0.00141
NM_002150.3(HPD):c.1038C>T (p.Leu346=)	rs145947530	0.00064
NM_002150.3(HPD):c.898C>A (p.Arg300=)	rs149281612	0.00051
NM_002150.3(HPD):c.954+14A>C	rs200866898	0.00039
NM_002150.3(HPD):c.93+20G>A	rs202081529	0.00021
NM_002150.3(HPD):c.199-12C>T	rs780308275	0.00020
NM_002150.3(HPD):c.759+8C>T	rs574773747	0.00018
NM_002150.3(HPD):c.249C>T (p.Gly83=)	rs137989475	0.00014
NM_002150.3(HPD):c.1071+10G>A	rs191293267	0.00009
NM_002150.3(HPD):c.972G>A (p.Val324=)	rs200240490	0.00009
NM_002150.3(HPD):c.760-7C>T	rs748133768	0.00006
NM_002150.3(HPD):c.199-16T>C	rs200721174	0.00004
NM_002150.3(HPD):c.531T>C (p.Ser177=)	rs113922752	0.00004
NM_002150.3(HPD):c.882G>A (p.Thr294=)	rs200038783	0.00004
NM_002150.3(HPD):c.915G>A (p.Thr305=)	rs751753975	0.00004
NM_002150.3(HPD):c.966C>A (p.Ile322=)	rs908075187	0.00004
NM_002150.3(HPD):c.222G>T (p.Ala74=)	rs757475819	0.00002
NM_002150.3(HPD):c.93+9C>T	rs542121054	0.00002
NM_002150.3(HPD):c.156C>T (p.Thr52=)	rs776140021	0.00001
NM_002150.3(HPD):c.273C>T (p.Asp91=)	rs777153098	0.00001
NM_002150.3(HPD):c.765T>C (p.Tyr255=)	rs767720774	0.00001
NM_002150.3(HPD):c.832-11C>T	rs1877487606	0.00001
NM_002150.3(HPD):c.1005C>A (p.Ile335=)
NM_002150.3(HPD):c.1017G>A (p.Pro339=)
NM_002150.3(HPD):c.1023G>A (p.Gln341=)
NM_002150.3(HPD):c.1026C>T (p.Asp342=)
NM_002150.3(HPD):c.1029G>A (p.Arg343=)
NM_002150.3(HPD):c.1032C>A (p.Pro344=)
NM_002150.3(HPD):c.1032C>T (p.Pro344=)
NM_002150.3(HPD):c.1071+12C>T
NM_002150.3(HPD):c.1071+13C>T
NM_002150.3(HPD):c.1071+15C>T
NM_002150.3(HPD):c.1072-13_1072-10del
NM_002150.3(HPD):c.1072-16C>G
NM_002150.3(HPD):c.1072-18CT[2]
NM_002150.3(HPD):c.1072-18_1072-16del
NM_002150.3(HPD):c.1072-4A>G
NM_002150.3(HPD):c.1072-7G>T
NM_002150.3(HPD):c.1077T>C (p.Phe359=)
NM_002150.3(HPD):c.1083C>G (p.Ala361=)
NM_002150.3(HPD):c.1086C>A (p.Gly362=)
NM_002150.3(HPD):c.1098A>G (p.Ser366=)
NM_002150.3(HPD):c.1116G>A (p.Glu372=)	rs2137605580
NM_002150.3(HPD):c.1134G>A (p.Arg378=)
NM_002150.3(HPD):c.1155G>A (p.Glu385=)
NM_002150.3(HPD):c.1164G>A (p.Gly388=)
NM_002150.3(HPD):c.1173C>G (p.Pro391=)
NM_002150.3(HPD):c.1173C>T (p.Pro391=)
NM_002150.3(HPD):c.1176C>T (p.Gly392=)
NM_002150.3(HPD):c.123C>T (p.Gly41=)
NM_002150.3(HPD):c.126T>C (p.Phe42=)
NM_002150.3(HPD):c.141C>T (p.Tyr47=)
NM_002150.3(HPD):c.147C>A (p.Gly49=)
NM_002150.3(HPD):c.147C>T (p.Gly49=)
NM_002150.3(HPD):c.168G>A (p.Glu56=)
NM_002150.3(HPD):c.183A>G (p.Val61=)
NM_002150.3(HPD):c.198+12C>T
NM_002150.3(HPD):c.199-10_199-8del
NM_002150.3(HPD):c.199-19C>T
NM_002150.3(HPD):c.199-5C>G
NM_002150.3(HPD):c.199-7A>G
NM_002150.3(HPD):c.199-8T>C
NM_002150.3(HPD):c.204G>C (p.Val68=)
NM_002150.3(HPD):c.222G>A (p.Ala74=)
NM_002150.3(HPD):c.241+10C>T
NM_002150.3(HPD):c.241+11C>G
NM_002150.3(HPD):c.241+11C>T
NM_002150.3(HPD):c.241+12G>A
NM_002150.3(HPD):c.241+14G>A
NM_002150.3(HPD):c.241+18G>A
NM_002150.3(HPD):c.242-9C>T
NM_002150.3(HPD):c.261G>C (p.Val87=)
NM_002150.3(HPD):c.267C>T (p.His89=)
NM_002150.3(HPD):c.288T>C (p.Ile96=)
NM_002150.3(HPD):c.297G>A (p.Glu99=)
NM_002150.3(HPD):c.3+11T>C
NM_002150.3(HPD):c.3+11del
NM_002150.3(HPD):c.3+14C>T
NM_002150.3(HPD):c.3+16A>G
NM_002150.3(HPD):c.3+20C>A
NM_002150.3(HPD):c.30+10C>A
NM_002150.3(HPD):c.30+10C>T
NM_002150.3(HPD):c.30+11G>A
NM_002150.3(HPD):c.30+15T>G
NM_002150.3(HPD):c.30+7A>C
NM_002150.3(HPD):c.30+9G>A
NM_002150.3(HPD):c.306T>C (p.Asp102=)
NM_002150.3(HPD):c.31-12C>T	rs1566574884
NM_002150.3(HPD):c.31-14C>T
NM_002150.3(HPD):c.31-16_31-15del
NM_002150.3(HPD):c.31-20C>T
NM_002150.3(HPD):c.31-7_31-5del
NM_002150.3(HPD):c.315C>T (p.Tyr105=)
NM_002150.3(HPD):c.324+12C>T	rs1394625839
NM_002150.3(HPD):c.324+19G>A
NM_002150.3(HPD):c.324+20G>T
NM_002150.3(HPD):c.324+8A>G	rs2137630925
NM_002150.3(HPD):c.324+9G>A
NM_002150.3(HPD):c.324+9G>C
NM_002150.3(HPD):c.325-12T>A
NM_002150.3(HPD):c.325-15C>T
NM_002150.3(HPD):c.325-19G>A
NM_002150.3(HPD):c.325-19G>C	rs200528285
NM_002150.3(HPD):c.325-20C>T
NM_002150.3(HPD):c.325-4G>T
NM_002150.3(HPD):c.325-8_325-6del
NM_002150.3(HPD):c.33T>C (p.Pro11=)
NM_002150.3(HPD):c.33T>G (p.Pro11=)
NM_002150.3(HPD):c.342C>A (p.Gly114=)
NM_002150.3(HPD):c.355C>A (p.Arg119=)	rs745739337
NM_002150.3(HPD):c.36G>A (p.Glu12=)
NM_002150.3(HPD):c.381G>A (p.Lys127=)
NM_002150.3(HPD):c.4-17C>T
NM_002150.3(HPD):c.4-18C>A
NM_002150.3(HPD):c.4-6C>T
NM_002150.3(HPD):c.414+11T>C
NM_002150.3(HPD):c.414+12T>C
NM_002150.3(HPD):c.414+14G>A
NM_002150.3(HPD):c.414+18C>A
NM_002150.3(HPD):c.414+18C>G
NM_002150.3(HPD):c.415-19G>C
NM_002150.3(HPD):c.415-5C>T
NM_002150.3(HPD):c.415-9C>T
NM_002150.3(HPD):c.420G>A (p.Gly140=)
NM_002150.3(HPD):c.42C>T (p.Gly14=)
NM_002150.3(HPD):c.459C>T (p.Ile153=)
NM_002150.3(HPD):c.471G>A (p.Leu157=)
NM_002150.3(HPD):c.474T>G (p.Pro158=)
NM_002150.3(HPD):c.492G>A (p.Ala164=)
NM_002150.3(HPD):c.518+12T>C
NM_002150.3(HPD):c.518+13C>T
NM_002150.3(HPD):c.518+14A>G
NM_002150.3(HPD):c.518+17G>T
NM_002150.3(HPD):c.519-16C>T
NM_002150.3(HPD):c.519-20_519-19dup
NM_002150.3(HPD):c.519-8C>T
NM_002150.3(HPD):c.537G>A (p.Glu179=)	rs2137618516
NM_002150.3(HPD):c.543C>A (p.Ile181=)
NM_002150.3(HPD):c.543C>T (p.Ile181=)	rs756242095
NM_002150.3(HPD):c.573G>A (p.Gln191=)
NM_002150.3(HPD):c.585C>T (p.Ser195=)
NM_002150.3(HPD):c.588C>T (p.Ala196=)
NM_002150.3(HPD):c.591C>T (p.Ser197=)
NM_002150.3(HPD):c.596+12del
NM_002150.3(HPD):c.596+18T>C
NM_002150.3(HPD):c.596+7C>A
NM_002150.3(HPD):c.596+8C>T
NM_002150.3(HPD):c.597-10C>T
NM_002150.3(HPD):c.597-13G>A
NM_002150.3(HPD):c.597-14C>T
NM_002150.3(HPD):c.597-16A>G
NM_002150.3(HPD):c.597-18C>T
NM_002150.3(HPD):c.597-20T>C
NM_002150.3(HPD):c.597-7C>T
NM_002150.3(HPD):c.60C>T (p.His20=)
NM_002150.3(HPD):c.618C>T (p.Phe206=)
NM_002150.3(HPD):c.624C>T (p.Arg208=)
NM_002150.3(HPD):c.633C>G (p.Ser211=)
NM_002150.3(HPD):c.633C>T (p.Ser211=)
NM_002150.3(HPD):c.645G>A (p.Thr215=)
NM_002150.3(HPD):c.645G>C (p.Thr215=)
NM_002150.3(HPD):c.645G>T (p.Thr215=)
NM_002150.3(HPD):c.657G>A (p.Thr219=)
NM_002150.3(HPD):c.663T>C (p.Tyr221=)
NM_002150.3(HPD):c.666C>T (p.Ser222=)
NM_002150.3(HPD):c.684G>A (p.Val228=)
NM_002150.3(HPD):c.699A>G (p.Glu233=)
NM_002150.3(HPD):c.6G>A (p.Thr2=)
NM_002150.3(HPD):c.732G>A (p.Ala244=)
NM_002150.3(HPD):c.732G>T (p.Ala244=)
NM_002150.3(HPD):c.735T>A (p.Pro245=)
NM_002150.3(HPD):c.759+12C>T
NM_002150.3(HPD):c.759+17C>T
NM_002150.3(HPD):c.759+19G>C
NM_002150.3(HPD):c.759+19G>T
NM_002150.3(HPD):c.759+9G>A
NM_002150.3(HPD):c.759+9G>C
NM_002150.3(HPD):c.760-11C>G
NM_002150.3(HPD):c.760-18_760-16del
NM_002150.3(HPD):c.760-19_760-17del
NM_002150.3(HPD):c.760-9C>T
NM_002150.3(HPD):c.777C>T (p.Asn259=)
NM_002150.3(HPD):c.780G>A (p.Gly260=)
NM_002150.3(HPD):c.783C>T (p.Gly261=)
NM_002150.3(HPD):c.789G>T (p.Gly263=)
NM_002150.3(HPD):c.798C>T (p.His266=)
NM_002150.3(HPD):c.831+11C>G
NM_002150.3(HPD):c.831+11C>T
NM_002150.3(HPD):c.831+12C>T
NM_002150.3(HPD):c.831+16C>A
NM_002150.3(HPD):c.831+7A>T
NM_002150.3(HPD):c.831+9C>A
NM_002150.3(HPD):c.831+9C>T
NM_002150.3(HPD):c.832-12G>A
NM_002150.3(HPD):c.832-15T>C
NM_002150.3(HPD):c.832-16C>T
NM_002150.3(HPD):c.84C>T (p.Asn28=)	rs1441672343
NM_002150.3(HPD):c.852A>G (p.Arg284=)
NM_002150.3(HPD):c.867A>G (p.Leu289=)
NM_002150.3(HPD):c.87C>T (p.Ala29=)
NM_002150.3(HPD):c.882G>T (p.Thr294=)
NM_002150.3(HPD):c.906G>A (p.Lys302=)
NM_002150.3(HPD):c.90G>A (p.Lys30=)
NM_002150.3(HPD):c.93+10G>A
NM_002150.3(HPD):c.93+16A>G
NM_002150.3(HPD):c.94-13C>T
NM_002150.3(HPD):c.94-9G>A
NM_002150.3(HPD):c.942T>C (p.Ile314=)
NM_002150.3(HPD):c.945T>C (p.Asp315=)
NM_002150.3(HPD):c.949C>T (p.Leu317=)
NM_002150.3(HPD):c.954+12G>A
NM_002150.3(HPD):c.954+17A>T
NM_002150.3(HPD):c.954+20C>T
NM_002150.3(HPD):c.954+9del
NM_002150.3(HPD):c.955-11C>T
NM_002150.3(HPD):c.955-14del
NM_002150.3(HPD):c.955-15_955-14del
NM_002150.3(HPD):c.955-19C>A
NM_002150.3(HPD):c.955-4C>T
NM_002150.3(HPD):c.955-6G>T
NM_002150.3(HPD):c.955-7C>G	rs554245277
NM_002150.3(HPD):c.955-7C>T
NM_002150.3(HPD):c.957G>A (p.Glu319=)
NM_002150.3(HPD):c.978C>T (p.Tyr326=)	rs781659195
NM_002150.3(HPD):c.981C>T (p.Asp327=)
NM_002150.3(HPD):c.987A>G (p.Lys329=)
NM_002150.3(HPD):c.993C>T (p.Tyr331=)
NM_002150.3(HPD):c.99G>A (p.Thr33=)

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