ClinVar Miner

List of variants reported as likely benign for Majeed syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 325
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=) rs141043192 0.00057
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001375808.2(LPIN2):c.552C>T (p.Gly184=) rs142048129 0.00034
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=) rs150312425 0.00026
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001375808.2(LPIN2):c.2327+10C>T rs367921036 0.00018
NM_001375808.2(LPIN2):c.1793+17C>T rs188429587 0.00016
NM_001375808.2(LPIN2):c.1793+18T>C rs533296054 0.00015
NM_001375808.2(LPIN2):c.1620+16del rs759865446 0.00014
NM_001375808.2(LPIN2):c.1794-14C>T rs377387275 0.00013
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001375808.2(LPIN2):c.2088-7T>G rs199713353 0.00011
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=) rs373520277 0.00011
NM_001375808.2(LPIN2):c.1268+13T>C rs371589907 0.00010
NM_001375808.2(LPIN2):c.2327+14A>G rs370048111 0.00010
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=) rs371358114 0.00010
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359 0.00008
NM_001375808.2(LPIN2):c.1821C>T (p.Asp607=) rs548432470 0.00008
NM_001375808.2(LPIN2):c.1887C>T (p.His629=) rs141252313 0.00007
NM_001375808.2(LPIN2):c.2174+10C>T rs201227858 0.00007
NM_001375808.2(LPIN2):c.588A>G (p.Ala196=) rs1020661683 0.00007
NM_001375808.2(LPIN2):c.591-20C>G rs370548322 0.00007
NM_001375808.2(LPIN2):c.1011C>T (p.Ser337=) rs375422942 0.00006
NM_001375808.2(LPIN2):c.1338C>T (p.Ser446=) rs753669833 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_001375808.2(LPIN2):c.1939-14T>C rs370284164 0.00005
NM_001375808.2(LPIN2):c.1956C>T (p.His652=) rs750220265 0.00005
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1168+7G>A rs370807298 0.00004
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=) rs778559792 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_001375808.2(LPIN2):c.193-18A>T rs748188345 0.00004
NM_001375808.2(LPIN2):c.2088-10G>A rs374043211 0.00004
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=) rs543890845 0.00003
NM_001375808.2(LPIN2):c.1329C>A (p.Ser443=) rs759651506 0.00003
NM_001375808.2(LPIN2):c.1800C>T (p.Ala600=) rs369572309 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001375808.2(LPIN2):c.2328-20T>C rs763961605 0.00003
NM_001375808.2(LPIN2):c.2547-11C>T rs776045621 0.00003
NM_001375808.2(LPIN2):c.540A>C (p.Thr180=) rs151135579 0.00003
NM_001375808.2(LPIN2):c.838C>A (p.Arg280=) rs759667494 0.00003
NM_001375808.2(LPIN2):c.1152G>A (p.Ser384=) rs375168505 0.00002
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) rs773074044 0.00002
NM_001375808.2(LPIN2):c.1362C>T (p.Ser454=) rs371484024 0.00002
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys) rs201325845 0.00002
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=) rs183435741 0.00002
NM_001375808.2(LPIN2):c.2174+18G>A rs748082204 0.00002
NM_001375808.2(LPIN2):c.2207G>A (p.Arg736His) rs779519224 0.00002
NM_001375808.2(LPIN2):c.2442+14G>C rs1434250691 0.00002
NM_001375808.2(LPIN2):c.289-12A>G rs375980851 0.00002
NM_001375808.2(LPIN2):c.417C>T (p.His139=) rs752124144 0.00002
NM_001375808.2(LPIN2):c.561C>T (p.Ser187=) rs755780342 0.00002
NM_001375808.2(LPIN2):c.591-19T>G rs765447652 0.00002
NM_001375808.2(LPIN2):c.606T>C (p.Ala202=) rs1157352133 0.00002
NM_001375808.2(LPIN2):c.717G>A (p.Ala239=) rs146368213 0.00002
NM_001375808.2(LPIN2):c.102C>T (p.Ile34=) rs961211983 0.00001
NM_001375808.2(LPIN2):c.1143A>G (p.Lys381=) rs574890650 0.00001
NM_001375808.2(LPIN2):c.1155G>A (p.Pro385=) rs558271134 0.00001
NM_001375808.2(LPIN2):c.1268+7T>C rs1375096557 0.00001
NM_001375808.2(LPIN2):c.1275G>A (p.Ser425=) rs1051720856 0.00001
NM_001375808.2(LPIN2):c.1299C>T (p.Pro433=) rs781673368 0.00001
NM_001375808.2(LPIN2):c.1332A>G (p.Pro444=) rs1297660489 0.00001
NM_001375808.2(LPIN2):c.1368C>T (p.Thr456=) rs748919467 0.00001
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435 0.00001
NM_001375808.2(LPIN2):c.1488C>T (p.His496=) rs773652492 0.00001
NM_001375808.2(LPIN2):c.1621-7T>G rs758701848 0.00001
NM_001375808.2(LPIN2):c.1711-9C>G rs774311463 0.00001
NM_001375808.2(LPIN2):c.1746G>A (p.Pro582=) rs756661200 0.00001
NM_001375808.2(LPIN2):c.1782G>A (p.Pro594=) rs763809465 0.00001
NM_001375808.2(LPIN2):c.1785C>T (p.Ala595=) rs775141304 0.00001
NM_001375808.2(LPIN2):c.1854A>G (p.Thr618=) rs753630025 0.00001
NM_001375808.2(LPIN2):c.1860C>T (p.Asp620=) rs760510209 0.00001
NM_001375808.2(LPIN2):c.1938+10G>A rs750261432 0.00001
NM_001375808.2(LPIN2):c.2091G>A (p.Ser697=) rs767788156 0.00001
NM_001375808.2(LPIN2):c.210C>T (p.Asn70=) rs780037453 0.00001
NM_001375808.2(LPIN2):c.2202G>A (p.Ser734=) rs559418917 0.00001
NM_001375808.2(LPIN2):c.2214C>T (p.Ile738=) rs769457477 0.00001
NM_001375808.2(LPIN2):c.2400G>C (p.Pro800=) rs747097533 0.00001
NM_001375808.2(LPIN2):c.2442+13T>C rs749917642 0.00001
NM_001375808.2(LPIN2):c.2443-14A>G rs749926941 0.00001
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001375808.2(LPIN2):c.2481T>C (p.Cys827=) rs771390365 0.00001
NM_001375808.2(LPIN2):c.2484A>G (p.Arg828=) rs761194035 0.00001
NM_001375808.2(LPIN2):c.2493C>T (p.Thr831=) rs1167923626 0.00001
NM_001375808.2(LPIN2):c.2502C>A (p.Pro834=) rs748215246 0.00001
NM_001375808.2(LPIN2):c.2674C>T (p.Leu892=) rs1414200193 0.00001
NM_001375808.2(LPIN2):c.27G>C (p.Gly9=) rs193085338 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.590+8T>G rs760846327 0.00001
NM_001375808.2(LPIN2):c.591-12T>C rs1392566154 0.00001
NM_001375808.2(LPIN2):c.705T>C (p.Tyr235=) rs376775853 0.00001
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) rs570485374 0.00001
NM_001375808.2(LPIN2):c.795G>A (p.Thr265=) rs373300544 0.00001
NM_001375808.2(LPIN2):c.822+8G>A rs1229703486 0.00001
NM_001375808.2(LPIN2):c.825C>T (p.Val275=) rs1296229873 0.00001
NM_001375808.2(LPIN2):c.87G>A (p.Gly29=) rs1346313879 0.00001
NM_001375808.2(LPIN2):c.1017A>G (p.Pro339=) rs2144195604
NM_001375808.2(LPIN2):c.1026G>A (p.Val342=) rs1232642116
NM_001375808.2(LPIN2):c.1026G>T (p.Val342=) rs1232642116
NM_001375808.2(LPIN2):c.1038C>T (p.Leu346=)
NM_001375808.2(LPIN2):c.1062G>A (p.Gln354=)
NM_001375808.2(LPIN2):c.108A>G (p.Val36=)
NM_001375808.2(LPIN2):c.1098C>T (p.Asn366=)
NM_001375808.2(LPIN2):c.1110G>A (p.Ala370=)
NM_001375808.2(LPIN2):c.1116G>A (p.Ala372=) rs773325510
NM_001375808.2(LPIN2):c.1116G>C (p.Ala372=)
NM_001375808.2(LPIN2):c.1125A>G (p.Glu375=)
NM_001375808.2(LPIN2):c.114G>A (p.Gln38=) rs2143202505
NM_001375808.2(LPIN2):c.1168+10del
NM_001375808.2(LPIN2):c.1168+14T>C
NM_001375808.2(LPIN2):c.1169-20C>G
NM_001375808.2(LPIN2):c.1169-4del
NM_001375808.2(LPIN2):c.1169-7T>G
NM_001375808.2(LPIN2):c.1169-8T>C rs2144178133
NM_001375808.2(LPIN2):c.1173T>G (p.Val391=)
NM_001375808.2(LPIN2):c.1185C>T (p.Ser395=) rs2077256730
NM_001375808.2(LPIN2):c.1254T>C (p.Leu418=)
NM_001375808.2(LPIN2):c.1268+11C>T
NM_001375808.2(LPIN2):c.1268+16T>C
NM_001375808.2(LPIN2):c.1268+9G>A rs1183619133
NM_001375808.2(LPIN2):c.1269-18C>G
NM_001375808.2(LPIN2):c.1269-8G>A
NM_001375808.2(LPIN2):c.126C>T (p.Ser42=) rs2143202348
NM_001375808.2(LPIN2):c.1299C>A (p.Pro433=) rs781673368
NM_001375808.2(LPIN2):c.1314C>G (p.Leu438=)
NM_001375808.2(LPIN2):c.1314C>T (p.Leu438=)
NM_001375808.2(LPIN2):c.1320C>G (p.Gly440=)
NM_001375808.2(LPIN2):c.1323C>G (p.Ser441=)
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) rs2144161943
NM_001375808.2(LPIN2):c.1410C>G (p.Thr470=) rs35932462
NM_001375808.2(LPIN2):c.1413C>T (p.Leu471=)
NM_001375808.2(LPIN2):c.1422C>T (p.Cys474=)
NM_001375808.2(LPIN2):c.1456+12G>A
NM_001375808.2(LPIN2):c.1456+8G>T
NM_001375808.2(LPIN2):c.1457-10T>C rs762492589
NM_001375808.2(LPIN2):c.1457-20ATT[2]
NM_001375808.2(LPIN2):c.1457-21_1457-18del
NM_001375808.2(LPIN2):c.1485T>C (p.Tyr495=)
NM_001375808.2(LPIN2):c.1497A>G (p.Ala499=)
NM_001375808.2(LPIN2):c.1506T>A (p.Pro502=)
NM_001375808.2(LPIN2):c.1524T>C (p.Pro508=) rs2144150762
NM_001375808.2(LPIN2):c.1527C>T (p.Asn509=) rs2144150748
NM_001375808.2(LPIN2):c.1550+11C>G
NM_001375808.2(LPIN2):c.1550+14C>G
NM_001375808.2(LPIN2):c.1550+8C>T
NM_001375808.2(LPIN2):c.1551-5C>G
NM_001375808.2(LPIN2):c.1572A>C (p.Ala524=)
NM_001375808.2(LPIN2):c.1591T>C (p.Leu531=)
NM_001375808.2(LPIN2):c.1620+8G>A
NM_001375808.2(LPIN2):c.1620+8G>C rs751918963
NM_001375808.2(LPIN2):c.1621-15G>A
NM_001375808.2(LPIN2):c.1621-16G>A
NM_001375808.2(LPIN2):c.1621-5T>C
NM_001375808.2(LPIN2):c.1621-5_1621-4insCAC rs2144144869
NM_001375808.2(LPIN2):c.1621-9T>G
NM_001375808.2(LPIN2):c.1710+15G>C
NM_001375808.2(LPIN2):c.1710+16G>A rs2077155215
NM_001375808.2(LPIN2):c.1710+19A>G
NM_001375808.2(LPIN2):c.1710+7G>A rs1345198380
NM_001375808.2(LPIN2):c.1710+7G>C
NM_001375808.2(LPIN2):c.1710+8A>T
NM_001375808.2(LPIN2):c.1711-11T>C
NM_001375808.2(LPIN2):c.1711-15A>C
NM_001375808.2(LPIN2):c.1711-16C>T
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1758C>T (p.Asp586=) rs2144139743
NM_001375808.2(LPIN2):c.1764A>T (p.Pro588=)
NM_001375808.2(LPIN2):c.1767C>A (p.Ser589=)
NM_001375808.2(LPIN2):c.1776G>A (p.Lys592=)
NM_001375808.2(LPIN2):c.1793+10C>T
NM_001375808.2(LPIN2):c.1793+15C>T
NM_001375808.2(LPIN2):c.1794-11A>T rs1287905667
NM_001375808.2(LPIN2):c.1794-12A>C
NM_001375808.2(LPIN2):c.1794-5A>T rs2144133645
NM_001375808.2(LPIN2):c.1794-9G>A rs587781026
NM_001375808.2(LPIN2):c.1812C>T (p.Ser604=)
NM_001375808.2(LPIN2):c.1827A>G (p.Gly609=)
NM_001375808.2(LPIN2):c.1879C>T (p.Leu627=)
NM_001375808.2(LPIN2):c.1902A>G (p.Ser634=) rs1171969014
NM_001375808.2(LPIN2):c.192+10C>G rs1568574874
NM_001375808.2(LPIN2):c.193-14T>G
NM_001375808.2(LPIN2):c.193-14dup
NM_001375808.2(LPIN2):c.193-7C>T
NM_001375808.2(LPIN2):c.193-9C>A
NM_001375808.2(LPIN2):c.1938+11C>T
NM_001375808.2(LPIN2):c.1938+15A>G
NM_001375808.2(LPIN2):c.1938+16T>C
NM_001375808.2(LPIN2):c.1938+17_1938+18del
NM_001375808.2(LPIN2):c.1939-15dup
NM_001375808.2(LPIN2):c.1939-19T>G
NM_001375808.2(LPIN2):c.1939-2del rs745529823
NM_001375808.2(LPIN2):c.1939-5A>G rs779830291
NM_001375808.2(LPIN2):c.1953C>G (p.Leu651=) rs2144129579
NM_001375808.2(LPIN2):c.1962C>T (p.Gly654=)
NM_001375808.2(LPIN2):c.1977G>A (p.Val659=)
NM_001375808.2(LPIN2):c.1983T>C (p.Ser661=)
NM_001375808.2(LPIN2):c.1986T>C (p.Ile662=)
NM_001375808.2(LPIN2):c.19C>T (p.Leu7=)
NM_001375808.2(LPIN2):c.2007C>T (p.Thr669=) rs761000111
NM_001375808.2(LPIN2):c.2013C>T (p.Arg671=)
NM_001375808.2(LPIN2):c.2031C>T (p.Tyr677=) rs2144129211
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=) rs749526038
NM_001375808.2(LPIN2):c.2055C>T (p.Ile685=)
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=) rs781016213
NM_001375808.2(LPIN2):c.2087+18G>C
NM_001375808.2(LPIN2):c.2087+9A>G rs1598522453
NM_001375808.2(LPIN2):c.2088-10_2088-8del rs1454496778
NM_001375808.2(LPIN2):c.2088-10dup
NM_001375808.2(LPIN2):c.2088-13A>G
NM_001375808.2(LPIN2):c.2088-8C>A
NM_001375808.2(LPIN2):c.2088-9T>C
NM_001375808.2(LPIN2):c.2098T>C (p.Leu700=)
NM_001375808.2(LPIN2):c.2103A>G (p.Gly701=)
NM_001375808.2(LPIN2):c.2119C>T (p.Leu707=) rs2144126370
NM_001375808.2(LPIN2):c.2124C>T (p.Gly708=) rs1170798474
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr) rs200256485
NM_001375808.2(LPIN2):c.2174+11T>A rs902479283
NM_001375808.2(LPIN2):c.2174+12C>T
NM_001375808.2(LPIN2):c.2174+14C>T
NM_001375808.2(LPIN2):c.2174+17C>T
NM_001375808.2(LPIN2):c.2174+8C>T rs2144126085
NM_001375808.2(LPIN2):c.2175-12G>C
NM_001375808.2(LPIN2):c.2175-12G>T
NM_001375808.2(LPIN2):c.2175-13T>C
NM_001375808.2(LPIN2):c.2175-14G>T rs374483994
NM_001375808.2(LPIN2):c.2175-7C>T
NM_001375808.2(LPIN2):c.2181C>G (p.Gly727=)
NM_001375808.2(LPIN2):c.2184C>T (p.Tyr728=)
NM_001375808.2(LPIN2):c.2196C>T (p.Tyr732=)
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_001375808.2(LPIN2):c.2217C>T (p.Gly739=)
NM_001375808.2(LPIN2):c.2268A>G (p.Thr756=)
NM_001375808.2(LPIN2):c.2283C>A (p.Gly761=)
NM_001375808.2(LPIN2):c.2283C>T (p.Gly761=)
NM_001375808.2(LPIN2):c.2287C>T (p.Leu763=) rs745533997
NM_001375808.2(LPIN2):c.2313C>T (p.Phe771=)
NM_001375808.2(LPIN2):c.2316C>A (p.Ser772=) rs145270447
NM_001375808.2(LPIN2):c.2327+9C>A rs536913334
NM_001375808.2(LPIN2):c.2327+9C>T rs536913334
NM_001375808.2(LPIN2):c.2328-15_2328-10del rs770202563
NM_001375808.2(LPIN2):c.2328-6T>A
NM_001375808.2(LPIN2):c.2340A>G (p.Glu780=)
NM_001375808.2(LPIN2):c.2397C>T (p.Ala799=)
NM_001375808.2(LPIN2):c.2400G>A (p.Pro800=) rs747097533
NM_001375808.2(LPIN2):c.2415C>T (p.Phe805=)
NM_001375808.2(LPIN2):c.2427T>C (p.Phe809=) rs1057520415
NM_001375808.2(LPIN2):c.2442+11C>A
NM_001375808.2(LPIN2):c.2442+12C>T
NM_001375808.2(LPIN2):c.2442+19C>G
NM_001375808.2(LPIN2):c.2442+8T>C rs2144115979
NM_001375808.2(LPIN2):c.2475A>G (p.Pro825=)
NM_001375808.2(LPIN2):c.249C>T (p.Asn83=)
NM_001375808.2(LPIN2):c.2529C>T (p.Thr843=)
NM_001375808.2(LPIN2):c.2546+10T>A rs2144112120
NM_001375808.2(LPIN2):c.2546+10T>C
NM_001375808.2(LPIN2):c.2546+13T>C
NM_001375808.2(LPIN2):c.2546+14C>T
NM_001375808.2(LPIN2):c.2546+16G>C
NM_001375808.2(LPIN2):c.2547-14A>G
NM_001375808.2(LPIN2):c.2547-15C>T
NM_001375808.2(LPIN2):c.2547-16C>T
NM_001375808.2(LPIN2):c.2547-5_2547-4del
NM_001375808.2(LPIN2):c.2595T>C (p.Ser865=)
NM_001375808.2(LPIN2):c.2598G>A (p.Lys866=)
NM_001375808.2(LPIN2):c.261C>T (p.Phe87=) rs2077581512
NM_001375808.2(LPIN2):c.2640C>T (p.Phe880=) rs754603570
NM_001375808.2(LPIN2):c.2661C>A (p.Ile887=)
NM_001375808.2(LPIN2):c.2667A>G (p.Glu889=)
NM_001375808.2(LPIN2):c.2682C>T (p.Asp894=)
NM_001375808.2(LPIN2):c.288+10C>T rs766750528
NM_001375808.2(LPIN2):c.288+13G>C rs2143137276
NM_001375808.2(LPIN2):c.288+19C>T
NM_001375808.2(LPIN2):c.289-18T>C
NM_001375808.2(LPIN2):c.289-20C>T
NM_001375808.2(LPIN2):c.289-6C>T
NM_001375808.2(LPIN2):c.289-6_289-4del
NM_001375808.2(LPIN2):c.330T>C (p.Thr110=)
NM_001375808.2(LPIN2):c.375G>A (p.Ser125=)
NM_001375808.2(LPIN2):c.375G>T (p.Ser125=) rs752271556
NM_001375808.2(LPIN2):c.393A>G (p.Pro131=)
NM_001375808.2(LPIN2):c.402T>C (p.Ser134=)
NM_001375808.2(LPIN2):c.411C>T (p.Ile137=)
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser) rs763550824
NM_001375808.2(LPIN2):c.432G>A (p.Glu144=) rs2143107238
NM_001375808.2(LPIN2):c.435A>G (p.Thr145=) rs867742294
NM_001375808.2(LPIN2):c.510G>A (p.Glu170=)
NM_001375808.2(LPIN2):c.540A>G (p.Thr180=) rs151135579
NM_001375808.2(LPIN2):c.582G>A (p.Gln194=) rs1555677025
NM_001375808.2(LPIN2):c.590+10_590+11del
NM_001375808.2(LPIN2):c.590+11C>T rs2143104651
NM_001375808.2(LPIN2):c.590+7C>T
NM_001375808.2(LPIN2):c.590+8TC[3] rs769949222
NM_001375808.2(LPIN2):c.590+9C>A rs773442071
NM_001375808.2(LPIN2):c.590+9C>G rs773442071
NM_001375808.2(LPIN2):c.591-11C>T
NM_001375808.2(LPIN2):c.609C>T (p.Ser203=)
NM_001375808.2(LPIN2):c.60G>A (p.Lys20=)
NM_001375808.2(LPIN2):c.675T>C (p.Asp225=) rs2144209692
NM_001375808.2(LPIN2):c.696G>A (p.Glu232=)
NM_001375808.2(LPIN2):c.698+13G>T
NM_001375808.2(LPIN2):c.698+14A>G
NM_001375808.2(LPIN2):c.698+15A>G
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.699-19_699-16del rs760882217
NM_001375808.2(LPIN2):c.702C>T (p.Thr234=) rs2144204821
NM_001375808.2(LPIN2):c.711G>A (p.Gln237=)
NM_001375808.2(LPIN2):c.72G>A (p.Gln24=)
NM_001375808.2(LPIN2):c.753T>G (p.Pro251=)
NM_001375808.2(LPIN2):c.769A>C (p.Arg257=)
NM_001375808.2(LPIN2):c.774A>C (p.Ser258=)
NM_001375808.2(LPIN2):c.807C>T (p.Phe269=)
NM_001375808.2(LPIN2):c.822+18C>T
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552
NM_001375808.2(LPIN2):c.84T>C (p.Ser28=)
NM_001375808.2(LPIN2):c.897G>C (p.Arg299=)
NM_001375808.2(LPIN2):c.99C>A (p.Val33=)
NM_001375808.2(LPIN2):c.99C>T (p.Val33=)
NM_001375808.2(LPIN2):c.9T>C (p.Tyr3=)

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