ClinVar Miner

List of variants in gene LRSAM1 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 400
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922 0.00063
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401 0.00054
NM_001005373.4(LRSAM1):c.*121C>T rs899262383 0.00053
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup) rs760944483 0.00035
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346 0.00031
NM_001005373.4(LRSAM1):c.*350C>A rs764119919 0.00030
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340 0.00024
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu) rs150820300 0.00024
NM_001005373.4(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009 0.00021
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=) rs140066362 0.00019
NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060 0.00019
NM_001005373.4(LRSAM1):c.-199A>G rs760403428 0.00018
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 0.00015
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223 0.00014
NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg) rs372408222 0.00014
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=) rs771491533 0.00014
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp) rs376468970 0.00011
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897 0.00011
NM_001005373.4(LRSAM1):c.620-3C>T rs373015900 0.00010
NM_001005373.4(LRSAM1):c.*588T>A rs886063461 0.00009
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.1422+15T>A rs372509526 0.00009
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911 0.00009
NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549 0.00009
NM_001005373.4(LRSAM1):c.*370C>T rs370358510 0.00008
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646 0.00008
NM_001005373.4(LRSAM1):c.*238G>A rs886063459 0.00006
NM_001005373.4(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702 0.00006
NM_001005373.4(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539 0.00006
NM_001005373.4(LRSAM1):c.1422+6C>T rs745690669 0.00006
NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met) rs773505699 0.00006
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met) rs555377969 0.00006
NM_001005373.4(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243 0.00006
NM_001005373.4(LRSAM1):c.-189+47C>T rs886063450 0.00005
NM_001005373.4(LRSAM1):c.1347+5G>A rs368570954 0.00005
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971 0.00005
NM_001005373.4(LRSAM1):c.368T>C (p.Ile123Thr) rs542497718 0.00005
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His) rs368689811 0.00005
NM_001005373.4(LRSAM1):c.568C>T (p.Arg190Trp) rs767583106 0.00005
NM_001005373.4(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052 0.00004
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp) rs763390117 0.00004
NM_001005373.4(LRSAM1):c.1145G>A (p.Arg382Gln) rs369596799 0.00004
NM_001005373.4(LRSAM1):c.1280G>A (p.Arg427Gln) rs200963472 0.00004
NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu) rs546739304 0.00004
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu) rs146106537 0.00004
NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp) rs140467743 0.00004
NM_001005373.4(LRSAM1):c.1757A>G (p.Tyr586Cys) rs768302528 0.00004
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His) rs537838691 0.00004
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085 0.00004
NM_001005373.4(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204 0.00004
NM_001005373.4(LRSAM1):c.1905C>G (p.Ile635Met) rs369161790 0.00004
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093 0.00004
NM_001005373.4(LRSAM1):c.252+3A>G rs764331245 0.00004
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137 0.00004
NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln) rs368646898 0.00004
NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val) rs1039329590 0.00004
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile) rs529333601 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988 0.00004
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met) rs775480266 0.00004
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173 0.00003
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098 0.00003
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001005373.4(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326 0.00003
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127 0.00003
NM_001005373.4(LRSAM1):c.*356G>A rs1394418871 0.00002
NM_001005373.4(LRSAM1):c.*597T>G rs751523580 0.00002
NM_001005373.4(LRSAM1):c.1043+5G>A rs780868977 0.00002
NM_001005373.4(LRSAM1):c.1058C>G (p.Ser353Cys) rs748144981 0.00002
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456 0.00002
NM_001005373.4(LRSAM1):c.1147C>T (p.Arg383Cys) rs1006024672 0.00002
NM_001005373.4(LRSAM1):c.1159+13A>T rs756667241 0.00002
NM_001005373.4(LRSAM1):c.1162G>A (p.Ala388Thr) rs138715791 0.00002
NM_001005373.4(LRSAM1):c.1239G>T (p.Leu413Phe) rs751314768 0.00002
NM_001005373.4(LRSAM1):c.1541T>A (p.Leu514Gln) rs758290295 0.00002
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys) rs1359751742 0.00002
NM_001005373.4(LRSAM1):c.1849G>T (p.Gly617Cys) rs770758847 0.00002
NM_001005373.4(LRSAM1):c.2009T>C (p.Val670Ala) rs748185533 0.00002
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys) rs746213887 0.00002
NM_001005373.4(LRSAM1):c.23G>A (p.Arg8Gln) rs777784051 0.00002
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys) rs772739566 0.00002
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys) rs770259167 0.00002
NM_001005373.4(LRSAM1):c.50G>A (p.Arg17His) rs776039231 0.00002
NM_001005373.4(LRSAM1):c.695G>A (p.Arg232Gln) rs778692919 0.00002
NM_001005373.4(LRSAM1):c.698A>C (p.Asp233Ala) rs747872731 0.00002
NM_001005373.4(LRSAM1):c.835C>T (p.Arg279Trp) rs766288153 0.00002
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln) rs201329646 0.00002
NM_001005373.4(LRSAM1):c.955G>A (p.Ala319Thr) rs756492485 0.00002
NM_001005373.4(LRSAM1):c.-127C>A rs1834340914 0.00001
NM_001005373.4(LRSAM1):c.-188-121A>G rs886063453 0.00001
NM_001005373.4(LRSAM1):c.-189+127A>G rs1434818116 0.00001
NM_001005373.4(LRSAM1):c.-78C>T rs886063454 0.00001
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=) rs886063456 0.00001
NM_001005373.4(LRSAM1):c.1037A>G (p.Asn346Ser) rs1188237904 0.00001
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117 0.00001
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457 0.00001
NM_001005373.4(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388 0.00001
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys) rs1381062773 0.00001
NM_001005373.4(LRSAM1):c.1102C>G (p.Gln368Glu) rs776814240 0.00001
NM_001005373.4(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293 0.00001
NM_001005373.4(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270 0.00001
NM_001005373.4(LRSAM1):c.1168C>G (p.Gln390Glu) rs1258411555 0.00001
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp) rs749575647 0.00001
NM_001005373.4(LRSAM1):c.122T>C (p.Leu41Pro) rs762731732 0.00001
NM_001005373.4(LRSAM1):c.1267G>A (p.Glu423Lys) rs767351229 0.00001
NM_001005373.4(LRSAM1):c.1347+3G>T rs375937623 0.00001
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr) rs765226810 0.00001
NM_001005373.4(LRSAM1):c.1454T>C (p.Leu485Pro) rs369939320 0.00001
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys) rs375737634 0.00001
NM_001005373.4(LRSAM1):c.1544T>A (p.Leu515His) rs1835983507 0.00001
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu) rs1468375975 0.00001
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710 0.00001
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=) rs1316186546 0.00001
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662 0.00001
NM_001005373.4(LRSAM1):c.1694T>C (p.Leu565Pro) rs1836091590 0.00001
NM_001005373.4(LRSAM1):c.1699-3C>T rs756218616 0.00001
NM_001005373.4(LRSAM1):c.17G>A (p.Arg6Gln) rs778740625 0.00001
NM_001005373.4(LRSAM1):c.1802G>C (p.Ser601Thr) rs201137230 0.00001
NM_001005373.4(LRSAM1):c.1834G>A (p.Gly612Ser) rs1203313855 0.00001
NM_001005373.4(LRSAM1):c.184G>A (p.Val62Ile) rs570688892 0.00001
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990 0.00001
NM_001005373.4(LRSAM1):c.1871G>A (p.Arg624Gln) rs775743246 0.00001
NM_001005373.4(LRSAM1):c.1921C>T (p.Pro641Ser) rs1479286608 0.00001
NM_001005373.4(LRSAM1):c.1952C>T (p.Ala651Val) rs777233045 0.00001
NM_001005373.4(LRSAM1):c.1993C>G (p.Pro665Ala) rs749204843 0.00001
NM_001005373.4(LRSAM1):c.2041C>T (p.Arg681Trp) rs773899723 0.00001
NM_001005373.4(LRSAM1):c.2046G>A (p.Glu682=) rs767249563 0.00001
NM_001005373.4(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544 0.00001
NM_001005373.4(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542 0.00001
NM_001005373.4(LRSAM1):c.2122C>A (p.Leu708Met) rs1836448549 0.00001
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His) rs770106776 0.00001
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys) rs772786050 0.00001
NM_001005373.4(LRSAM1):c.2153G>A (p.Arg718His) rs764890552 0.00001
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp) rs752596738 0.00001
NM_001005373.4(LRSAM1):c.259G>T (p.Asp87Tyr) rs1172570035 0.00001
NM_001005373.4(LRSAM1):c.261T>G (p.Asp87Glu) rs746714138 0.00001
NM_001005373.4(LRSAM1):c.274C>A (p.Gln92Lys) rs1231990557 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001005373.4(LRSAM1):c.306G>C (p.Gln102His) rs1392534147 0.00001
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala) rs1324443410 0.00001
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His) rs143910539 0.00001
NM_001005373.4(LRSAM1):c.390G>C (p.Gln130His) rs1392820291 0.00001
NM_001005373.4(LRSAM1):c.449G>A (p.Arg150Gln) rs200115008 0.00001
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His) rs1255236822 0.00001
NM_001005373.4(LRSAM1):c.544G>A (p.Ala182Thr) rs780636250 0.00001
NM_001005373.4(LRSAM1):c.551C>T (p.Ala184Val) rs947752458 0.00001
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val) rs542077582 0.00001
NM_001005373.4(LRSAM1):c.5C>T (p.Pro2Leu) rs553074777 0.00001
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685 0.00001
NM_001005373.4(LRSAM1):c.64A>T (p.Met22Leu) rs769236666 0.00001
NM_001005373.4(LRSAM1):c.694C>T (p.Arg232Trp) rs754527468 0.00001
NM_001005373.4(LRSAM1):c.775A>T (p.Arg259Trp) rs548898578 0.00001
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys) rs1414933191 0.00001
NM_001005373.4(LRSAM1):c.821T>C (p.Leu274Pro) rs1160703093 0.00001
NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714 0.00001
NM_001005373.4(LRSAM1):c.893C>T (p.Thr298Met) rs747368361 0.00001
NM_001005373.4(LRSAM1):c.968G>A (p.Arg323Gln) rs776157689 0.00001
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=) rs940085400 0.00001
NM_001005373.4(LRSAM1):c.98T>G (p.Ile33Ser) rs1276292442 0.00001
NC_000009.11:g.(?_130216797)_(130224662_?)dup
NC_000009.11:g.(?_130216807)_(130265178_?)dup
NC_000009.11:g.(?_130221262)_(130224672_?)del
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NM_001005373.4(LRSAM1):c.*392G>T rs1371405396
NM_001005373.4(LRSAM1):c.*501C>T rs886063460
NM_001005373.4(LRSAM1):c.*552A>G rs1836474069
NM_001005373.4(LRSAM1):c.-189+110G>A rs886063451
NM_001005373.4(LRSAM1):c.-189+120_-189+122del rs749626964
NM_001005373.4(LRSAM1):c.-35C>T rs989000729
NM_001005373.4(LRSAM1):c.1012C>T (p.Arg338Trp)
NM_001005373.4(LRSAM1):c.1019A>G (p.Gln340Arg)
NM_001005373.4(LRSAM1):c.1035C>G (p.Asp345Glu) rs766701971
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001005373.4(LRSAM1):c.1044-7T>A
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile) rs915109407
NM_001005373.4(LRSAM1):c.1063A>G (p.Ile355Val)
NM_001005373.4(LRSAM1):c.106A>G (p.Ile36Val)
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His) rs1835524755
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser) rs1835524861
NM_001005373.4(LRSAM1):c.1091T>C (p.Ile364Thr) rs1588123900
NM_001005373.4(LRSAM1):c.1092A>G (p.Ile364Met)
NM_001005373.4(LRSAM1):c.110C>G (p.Ser37Cys)
NM_001005373.4(LRSAM1):c.1159+3G>A
NM_001005373.4(LRSAM1):c.1159+5G>A
NM_001005373.4(LRSAM1):c.1165A>C (p.Met389Leu)
NM_001005373.4(LRSAM1):c.1183G>A (p.Glu395Lys) rs2132080972
NM_001005373.4(LRSAM1):c.1217A>G (p.Tyr406Cys)
NM_001005373.4(LRSAM1):c.1236C>A (p.Asn412Lys) rs186139632
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val) rs1835780785
NM_001005373.4(LRSAM1):c.1264G>A (p.Ala422Thr)
NM_001005373.4(LRSAM1):c.1264G>T (p.Ala422Ser) rs372452916
NM_001005373.4(LRSAM1):c.1270A>G (p.Met424Val) rs750243357
NM_001005373.4(LRSAM1):c.1274A>G (p.Asp425Gly)
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
NM_001005373.4(LRSAM1):c.1311G>A (p.Met437Ile)
NM_001005373.4(LRSAM1):c.1324G>A (p.Ala442Thr)
NM_001005373.4(LRSAM1):c.132T>G (p.Ile44Met)
NM_001005373.4(LRSAM1):c.1332C>A (p.Ser444Arg) rs1299926632
NM_001005373.4(LRSAM1):c.1347+6C>T rs1588128875
NM_001005373.4(LRSAM1):c.1349G>A (p.Ser450Asn)
NM_001005373.4(LRSAM1):c.134C>T (p.Pro45Leu)
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1367C>T (p.Ala456Val) rs1299851938
NM_001005373.4(LRSAM1):c.1382A>G (p.Gln461Arg)
NM_001005373.4(LRSAM1):c.13T>C (p.Phe5Leu) rs201473713
NM_001005373.4(LRSAM1):c.1401G>C (p.Met467Ile)
NM_001005373.4(LRSAM1):c.1416G>C (p.Arg472Ser) rs2132092071
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg) rs1345645228
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser) rs1835920830
NM_001005373.4(LRSAM1):c.146T>C (p.Phe49Ser) rs942509436
NM_001005373.4(LRSAM1):c.147T>G (p.Phe49Leu)
NM_001005373.4(LRSAM1):c.148G>C (p.Ala50Pro)
NM_001005373.4(LRSAM1):c.1495T>C (p.Ser499Pro)
NM_001005373.4(LRSAM1):c.1503+4T>C
NM_001005373.4(LRSAM1):c.1503+6T>C rs2132098269
NM_001005373.4(LRSAM1):c.1504-14G>A
NM_001005373.4(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_001005373.4(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_001005373.4(LRSAM1):c.158A>G (p.Lys53Arg) rs754095363
NM_001005373.4(LRSAM1):c.1598T>G (p.Leu533Arg)
NM_001005373.4(LRSAM1):c.1605_1607dup (p.Leu536_Glu537insLeu)
NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)
NM_001005373.4(LRSAM1):c.1619G>A (p.Ser540Asn)
NM_001005373.4(LRSAM1):c.1642T>A (p.Trp548Arg)
NM_001005373.4(LRSAM1):c.1659A>T (p.Gln553His)
NM_001005373.4(LRSAM1):c.1666T>A (p.Leu556Met)
NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)
NM_001005373.4(LRSAM1):c.1698+6G>A
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=) rs1256215388
NM_001005373.4(LRSAM1):c.1714C>G (p.Arg572Gly)
NM_001005373.4(LRSAM1):c.1715G>A (p.Arg572His) rs1451403749
NM_001005373.4(LRSAM1):c.1730T>C (p.Leu577Pro) rs1836124813
NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg) rs1235938569
NM_001005373.4(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001005373.4(LRSAM1):c.1751A>C (p.Glu584Ala)
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp) rs1183629673
NM_001005373.4(LRSAM1):c.176T>C (p.Val59Ala) rs1834556433
NM_001005373.4(LRSAM1):c.1773_1774delinsAA (p.His592Asn) rs1836128229
NM_001005373.4(LRSAM1):c.1775A>C (p.His592Pro) rs1039132247
NM_001005373.4(LRSAM1):c.1775A>G (p.His592Arg)
NM_001005373.4(LRSAM1):c.1775A>T (p.His592Leu)
NM_001005373.4(LRSAM1):c.1778A>G (p.His593Arg)
NM_001005373.4(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_001005373.4(LRSAM1):c.1817G>A (p.Gly606Glu)
NM_001005373.4(LRSAM1):c.1819G>T (p.Asp607Tyr) rs1480003668
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr) rs1834556629
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met) rs771783337
NM_001005373.4(LRSAM1):c.1840T>C (p.Ser614Pro)
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val) rs1836186573
NM_001005373.4(LRSAM1):c.1867C>T (p.Leu623Phe)
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp) rs375938990
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg) rs1836188217
NM_001005373.4(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_001005373.4(LRSAM1):c.1912+4_1912+5delinsTC rs1836189857
NM_001005373.4(LRSAM1):c.1918A>G (p.Lys640Glu)
NM_001005373.4(LRSAM1):c.191C>T (p.Thr64Met)
NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del)
NM_001005373.4(LRSAM1):c.1922C>T (p.Pro641Leu)
NM_001005373.4(LRSAM1):c.1927A>G (p.Met643Val)
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser) rs201284198
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_001005373.4(LRSAM1):c.1936G>A (p.Val646Ile) rs748358043
NM_001005373.4(LRSAM1):c.1936G>T (p.Val646Phe) rs748358043
NM_001005373.4(LRSAM1):c.1943C>T (p.Thr648Ile)
NM_001005373.4(LRSAM1):c.1963C>T (p.Pro655Ser) rs1291622809
NM_001005373.4(LRSAM1):c.1964C>T (p.Pro655Leu) rs376913816
NM_001005373.4(LRSAM1):c.1985C>T (p.Ser662Phe)
NM_001005373.4(LRSAM1):c.1987G>A (p.Ala663Thr)
NM_001005373.4(LRSAM1):c.1990C>A (p.Pro664Thr) rs148846371
NM_001005373.4(LRSAM1):c.1990C>T (p.Pro664Ser)
NM_001005373.4(LRSAM1):c.1A>T (p.Met1Leu) rs1399738186
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_001005373.4(LRSAM1):c.2008G>A (p.Val670Met)
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs) rs1836372698
NM_001005373.4(LRSAM1):c.2023T>A (p.Cys675Ser)
NM_001005373.4(LRSAM1):c.2026G>T (p.Val676Phe)
NM_001005373.4(LRSAM1):c.2029G>A (p.Val677Met)
NM_001005373.4(LRSAM1):c.2029_2046+7del rs1836374325
NM_001005373.4(LRSAM1):c.2032T>C (p.Cys678Arg)
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
NM_001005373.4(LRSAM1):c.2033G>C (p.Cys678Ser) rs2132128518
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_001005373.4(LRSAM1):c.2042G>C (p.Arg681Pro) rs143479340
NM_001005373.4(LRSAM1):c.2046+1G>A
NM_001005373.4(LRSAM1):c.2046+1G>T rs1588143215
NM_001005373.4(LRSAM1):c.2046_2046+12del rs2132128595
NM_001005373.4(LRSAM1):c.2047-1G>A rs1564287793
NM_001005373.4(LRSAM1):c.2047-3C>T rs1588144581
NM_001005373.4(LRSAM1):c.2056A>G (p.Ile686Val) rs1836444367
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser) rs1836444481
NM_001005373.4(LRSAM1):c.2069G>A (p.Cys690Tyr) rs2132133792
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp) rs1836445139
NM_001005373.4(LRSAM1):c.2074C>T (p.His692Tyr) rs1836445139
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_001005373.4(LRSAM1):c.2077G>A (p.Val693Ile)
NM_001005373.4(LRSAM1):c.2077G>C (p.Val693Leu)
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser) rs2132133880
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_001005373.4(LRSAM1):c.2087G>T (p.Cys696Phe)
NM_001005373.4(LRSAM1):c.2096G>T (p.Cys699Phe) rs1275428830
NM_001005373.4(LRSAM1):c.2098T>C (p.Cys700Arg)
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_001005373.4(LRSAM1):c.2110C>A (p.Arg704Ser) rs150984897
NM_001005373.4(LRSAM1):c.2111G>T (p.Arg704Leu)
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=) rs1410005477
NM_001005373.4(LRSAM1):c.2120C>G (p.Pro707Arg)
NM_001005373.4(LRSAM1):c.2134G>A (p.Asp712Asn) rs1351504702
NM_001005373.4(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) rs1588144737
NM_001005373.4(LRSAM1):c.2161_2163del (p.His721del) rs1196955593
NM_001005373.4(LRSAM1):c.22C>G (p.Arg8Gly)
NM_001005373.4(LRSAM1):c.247A>G (p.Ile83Val)
NM_001005373.4(LRSAM1):c.253-9C>A rs199925705
NM_001005373.4(LRSAM1):c.253G>A (p.Val85Ile) rs765537196
NM_001005373.4(LRSAM1):c.253G>T (p.Val85Phe)
NM_001005373.4(LRSAM1):c.262C>A (p.Leu88Ile) rs757094037
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg) rs769569457
NM_001005373.4(LRSAM1):c.301G>A (p.Gly101Arg) rs558871054
NM_001005373.4(LRSAM1):c.322-2_322-1insACGTGGAAA
NM_001005373.4(LRSAM1):c.341A>G (p.Asn114Ser) rs2132010693
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val) rs1224073398
NM_001005373.4(LRSAM1):c.361C>T (p.Arg121Cys)
NM_001005373.4(LRSAM1):c.368T>A (p.Ile123Asn)
NM_001005373.4(LRSAM1):c.370G>A (p.Gly124Arg)
NM_001005373.4(LRSAM1):c.375C>A (p.Asn125Lys) rs779873656
NM_001005373.4(LRSAM1):c.382C>A (p.Gln128Lys) rs1168470052
NM_001005373.4(LRSAM1):c.405A>G (p.Lys135=) rs1834732440
NM_001005373.4(LRSAM1):c.406+5G>A rs1834732559
NM_001005373.4(LRSAM1):c.431A>C (p.Asp144Ala)
NM_001005373.4(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_001005373.4(LRSAM1):c.44G>T (p.Arg15Leu)
NM_001005373.4(LRSAM1):c.484A>T (p.Ile162Phe)
NM_001005373.4(LRSAM1):c.497C>G (p.Pro166Arg) rs142085060
NM_001005373.4(LRSAM1):c.506T>A (p.Leu169Gln) rs2132014587
NM_001005373.4(LRSAM1):c.518G>A (p.Arg173Gln)
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile) rs2132014659
NM_001005373.4(LRSAM1):c.528+6T>C
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_001005373.4(LRSAM1):c.533T>C (p.Leu178Pro)
NM_001005373.4(LRSAM1):c.544G>T (p.Ala182Ser) rs780636250
NM_001005373.4(LRSAM1):c.553A>G (p.Met185Val)
NM_001005373.4(LRSAM1):c.565C>A (p.Pro189Thr)
NM_001005373.4(LRSAM1):c.572A>T (p.Glu191Val)
NM_001005373.4(LRSAM1):c.578G>A (p.Cys193Tyr)
NM_001005373.4(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_001005373.4(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_001005373.4(LRSAM1):c.595G>A (p.Ala199Thr) rs745326217
NM_001005373.4(LRSAM1):c.615C>G (p.Cys205Trp) rs886063455
NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)
NM_001005373.4(LRSAM1):c.620-7_620-6del rs1468536961
NM_001005373.4(LRSAM1):c.625G>A (p.Gly209Arg)
NM_001005373.4(LRSAM1):c.640C>T (p.Pro214Ser)
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001005373.4(LRSAM1):c.643C>G (p.Pro215Ala) rs765389102
NM_001005373.4(LRSAM1):c.676G>A (p.Asp226Asn) rs1419447675
NM_001005373.4(LRSAM1):c.684C>G (p.Ile228Met) rs376671005
NM_001005373.4(LRSAM1):c.689A>T (p.Asn230Ile) rs2132047940
NM_001005373.4(LRSAM1):c.695G>T (p.Arg232Leu)
NM_001005373.4(LRSAM1):c.707A>G (p.Asp236Gly)
NM_001005373.4(LRSAM1):c.716C>G (p.Thr239Arg)
NM_001005373.4(LRSAM1):c.716C>T (p.Thr239Met) rs565827207
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp) rs2132048170
NM_001005373.4(LRSAM1):c.756G>T (p.Arg252Ser)
NM_001005373.4(LRSAM1):c.764A>T (p.Asp255Val)
NM_001005373.4(LRSAM1):c.766T>C (p.Tyr256His) rs2132060933
NM_001005373.4(LRSAM1):c.781-15A>T
NM_001005373.4(LRSAM1):c.781G>A (p.Glu261Lys) rs2132062152
NM_001005373.4(LRSAM1):c.792G>A (p.Met264Ile) rs773572737
NM_001005373.4(LRSAM1):c.815G>A (p.Arg272Gln)
NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His) rs368088593
NM_001005373.4(LRSAM1):c.818G>C (p.Arg273Pro)
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys) rs767107676
NM_001005373.4(LRSAM1):c.836G>A (p.Arg279Gln)
NM_001005373.4(LRSAM1):c.842A>G (p.His281Arg)
NM_001005373.4(LRSAM1):c.847C>G (p.Gln283Glu)
NM_001005373.4(LRSAM1):c.850C>T (p.Leu284Phe) rs1835452387
NM_001005373.4(LRSAM1):c.866G>A (p.Ser289Asn)
NM_001005373.4(LRSAM1):c.86G>C (p.Gly29Ala) rs142846298
NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_001005373.4(LRSAM1):c.904-20A>T rs1588120687
NM_001005373.4(LRSAM1):c.904-3C>T
NM_001005373.4(LRSAM1):c.917T>C (p.Leu306Pro) rs140151379
NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_001005373.4(LRSAM1):c.929T>G (p.Leu310Arg)
NM_001005373.4(LRSAM1):c.937C>T (p.His313Tyr) rs1588120809
NM_001005373.4(LRSAM1):c.944G>T (p.Arg315Leu) rs764321843
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
NM_001005373.4(LRSAM1):c.953A>G (p.Asn318Ser)
NM_001005373.4(LRSAM1):c.961C>T (p.Arg321Trp)
NM_001005373.4(LRSAM1):c.982C>G (p.Leu328Val) rs2132064383

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.