ClinVar Miner

List of variants reported as likely pathogenic for Lysinuric protein intolerance

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs) rs386833809 0.00002
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro) rs386833814 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu) rs386833793 0.00001
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter) rs773357652 0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798 0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs) rs752263234 0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs) rs1355745932 0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs) rs386833806 0.00001
NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro) rs386833815 0.00001
NC_000014.8:g.(23249261_23282108)_(23289021_?)del
NC_000014.8:g.(?_23247992)_(23249270_?)dup
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile) rs386833792
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_003982.4(SLC7A7):c.1013_1025del (p.Gly338fs)
NM_003982.4(SLC7A7):c.1051_1057del (p.Ile351fs)
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del) rs386833796
NM_003982.4(SLC7A7):c.1093A>T (p.Asn365Tyr) rs386833797
NM_003982.4(SLC7A7):c.1158C>A (p.Ser386Arg) rs386833799
NM_003982.4(SLC7A7):c.1169G>A (p.Trp390Ter)
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.118_119insGTTA (p.Leu40fs)
NM_003982.4(SLC7A7):c.118_127del (p.Leu40fs)
NM_003982.4(SLC7A7):c.1215G>A (p.Trp405Ter)
NM_003982.4(SLC7A7):c.1245+2T>C
NM_003982.4(SLC7A7):c.1246-26_1248del rs2038542991
NM_003982.4(SLC7A7):c.1262del (p.Pro421fs) rs386833801
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs) rs2139383552
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg) rs386833802
NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs) rs1489021418
NM_003982.4(SLC7A7):c.1344del (p.Ile449fs) rs386833803
NM_003982.4(SLC7A7):c.1353_1366del (p.Ser452fs)
NM_003982.4(SLC7A7):c.1371C>A (p.Tyr457Ter) rs386833804
NM_003982.4(SLC7A7):c.1371C>G (p.Tyr457Ter)
NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)
NM_003982.4(SLC7A7):c.1465T>C (p.Ser489Pro) rs386833810
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_003982.4(SLC7A7):c.177del (p.Lys60fs)
NM_003982.4(SLC7A7):c.1A>G (p.Met1Val)
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs) rs386833812
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs) rs386833813
NM_003982.4(SLC7A7):c.2T>C (p.Met1Thr)
NM_003982.4(SLC7A7):c.310_314del (p.Tyr104fs)
NM_003982.4(SLC7A7):c.446dup (p.Ser150fs)
NM_003982.4(SLC7A7):c.454T>C (p.Phe152Leu) rs386833816
NM_003982.4(SLC7A7):c.499+1G>A rs386833817
NM_003982.4(SLC7A7):c.499+2T>G
NM_003982.4(SLC7A7):c.516del (p.Asn173fs) rs2038690553
NM_003982.4(SLC7A7):c.539del (p.Gly180fs) rs1414333836
NM_003982.4(SLC7A7):c.563C>T (p.Thr188Ile) rs386833819
NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu) rs386833820
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter) rs386833821
NM_003982.4(SLC7A7):c.625+1G>C rs386833822
NM_003982.4(SLC7A7):c.625+1G>T rs386833822
NM_003982.4(SLC7A7):c.626-2A>G
NM_003982.4(SLC7A7):c.626-2A>T
NM_003982.4(SLC7A7):c.669del (p.Phe223fs)
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter) rs2038664064
NM_003982.4(SLC7A7):c.753G>T (p.Glu251Asp) rs386833824
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter) rs2139394686
NM_003982.4(SLC7A7):c.770+1G>A
NM_003982.4(SLC7A7):c.770+1G>T rs1264298481
NM_003982.4(SLC7A7):c.770+1del rs2139394672
NM_003982.4(SLC7A7):c.782T>C (p.Leu261Pro) rs386833825
NM_003982.4(SLC7A7):c.819_822del (p.Tyr274fs)
NM_003982.4(SLC7A7):c.820dup (p.Tyr274fs) rs386833826
NM_003982.4(SLC7A7):c.863_866del (p.Arg288fs)
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter) rs2138663895
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_003982.4(SLC7A7):c.895-2A>G rs146582474
NM_003982.4(SLC7A7):c.928del (p.Trp310fs)
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter) rs2038594225
NM_003982.4(SLC7A7):c.944del (p.Leu314_Ser315insTer)
NM_003982.4(SLC7A7):c.94A>T (p.Lys32Ter)
NM_003982.4(SLC7A7):c.998+1G>T rs386833828
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met) rs386833829
NM_003982.4(SLC7A7):c.999-1G>C

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