ClinVar Miner

List of variants reported for Lysinuric protein intolerance by Fulgent Genetics, Fulgent Genetics

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_003982.4(SLC7A7):c.500-20C>G rs375933584 0.00049
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=) rs145777568 0.00035
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=) rs750881343 0.00022
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe) rs201534081 0.00017
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg) rs144264145 0.00016
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=) rs146077876 0.00013
NM_003982.4(SLC7A7):c.625+10A>G rs200420079 0.00010
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=) rs754387668 0.00009
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile) rs368317123 0.00008
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys) rs370847983 0.00006
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu) rs142739200 0.00005
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln) rs368317701 0.00004
NM_003982.4(SLC7A7):c.126C>T (p.Gly42=) rs773097626 0.00004
NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val) rs141632828 0.00004
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=) rs143853134 0.00004
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe) rs371860097 0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=) rs750720946 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met) rs769093980 0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val) rs779266344 0.00003
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=) rs143240690 0.00003
NM_003982.4(SLC7A7):c.894+6G>A rs373812507 0.00003
NM_003982.4(SLC7A7):c.1429+8G>A rs201766738 0.00002
NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu) rs998787372 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr) rs1005993109 0.00002
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798 0.00001
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val) rs756936473 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.1403G>A (p.Arg468Gln) rs746907619 0.00001
NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg) rs773635994 0.00001
NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro) rs755890052 0.00001
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr) rs775943127 0.00001
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=) rs375485114 0.00001
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=) rs747530058 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg) rs755142027 0.00001
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser) rs11568424
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del) rs386833796
NM_003982.4(SLC7A7):c.1095+14A>G rs2139386863
NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys) rs1160393188
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His) rs201305817
NM_003982.4(SLC7A7):c.1245+10C>T rs531427504
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly) rs1055499594
NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys) rs375791337
NM_003982.4(SLC7A7):c.352A>T (p.Ile118Phe) rs750589845
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg) rs1064797037
NM_003982.4(SLC7A7):c.390C>G (p.Thr130=) rs1473768240
NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly) rs2139397401
NM_003982.4(SLC7A7):c.625+18T>C rs974421997
NM_003982.4(SLC7A7):c.770+1del rs2139394672
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter) rs2138663895
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser) rs1409622896
NM_003982.4(SLC7A7):c.999-16A>G rs1594944509

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