ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr) rs140609636 0.00048
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001375808.2(LPIN2):c.1133C>T (p.Pro378Leu) rs146067222 0.00025
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu) rs139826951 0.00025
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro) rs373929015 0.00025
NM_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser) rs201678207 0.00018
NM_001375808.2(LPIN2):c.1957G>A (p.Asp653Asn) rs148258407 0.00015
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724 0.00013
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu) rs147203309 0.00011
NM_001375808.2(LPIN2):c.192+3G>A rs377113126 0.00010
NM_001375808.2(LPIN2):c.1168+4A>G rs368340969 0.00009
NM_001375808.2(LPIN2):c.2624C>T (p.Pro875Leu) rs367929381 0.00009
NM_001375808.2(LPIN2):c.2566C>G (p.Leu856Val) rs200839841 0.00008
NM_001375808.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040 0.00006
NM_001375808.2(LPIN2):c.2261A>G (p.Lys754Arg) rs1028913918 0.00006
NM_001375808.2(LPIN2):c.2399C>T (p.Pro800Leu) rs748431474 0.00006
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr) rs540544894 0.00005
NM_001375808.2(LPIN2):c.1711-3C>T rs753743998 0.00005
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter) rs547662448 0.00005
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr) rs181542503 0.00005
NM_001375808.2(LPIN2):c.1074G>A (p.Met358Ile) rs750095569 0.00004
NM_001375808.2(LPIN2):c.1282G>A (p.Gly428Ser) rs768189312 0.00004
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val) rs781705610 0.00004
NM_001375808.2(LPIN2):c.1435G>A (p.Glu479Lys) rs571085377 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864 0.00004
NM_001375808.2(LPIN2):c.2434C>T (p.Arg812Cys) rs754916357 0.00004
NM_001375808.2(LPIN2):c.2450A>G (p.Tyr817Cys) rs759880645 0.00004
NM_001375808.2(LPIN2):c.2567T>G (p.Leu856Arg) rs768061281 0.00004
NM_001375808.2(LPIN2):c.377G>A (p.Gly126Asp) rs778376881 0.00004
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys) rs371299772 0.00004
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 0.00003
NM_001375808.2(LPIN2):c.1274C>T (p.Ser425Leu) rs772737665 0.00003
NM_001375808.2(LPIN2):c.2278C>T (p.Arg760Trp) rs371146662 0.00003
NM_001375808.2(LPIN2):c.2343G>T (p.Lys781Asn) rs765195065 0.00003
NM_001375808.2(LPIN2):c.2655C>A (p.Asp885Glu) rs140002239 0.00003
NM_001375808.2(LPIN2):c.553G>A (p.Val185Met) rs148620026 0.00003
NM_001375808.2(LPIN2):c.584C>T (p.Ala195Val) rs1226336598 0.00003
NM_001375808.2(LPIN2):c.106G>A (p.Val36Ile) rs774019375 0.00002
NM_001375808.2(LPIN2):c.1118C>T (p.Pro373Leu) rs772230305 0.00002
NM_001375808.2(LPIN2):c.1154C>T (p.Pro385Leu) rs754221410 0.00002
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222 0.00002
NM_001375808.2(LPIN2):c.1367C>T (p.Thr456Ile) rs368807055 0.00002
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) rs759229367 0.00002
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) rs139768435 0.00002
NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu) rs781778980 0.00002
NM_001375808.2(LPIN2):c.200T>C (p.Ile67Thr) rs1385257235 0.00002
NM_001375808.2(LPIN2):c.2255A>G (p.Asn752Ser) rs767620772 0.00002
NM_001375808.2(LPIN2):c.2381T>C (p.Ile794Thr) rs183821298 0.00002
NM_001375808.2(LPIN2):c.2408A>T (p.Gln803Leu) rs777924824 0.00002
NM_001375808.2(LPIN2):c.2420C>T (p.Ala807Val) rs752533626 0.00002
NM_001375808.2(LPIN2):c.2651G>A (p.Arg884Gln) rs781500548 0.00002
NM_001375808.2(LPIN2):c.367G>C (p.Val123Leu) rs777511827 0.00002
NM_001375808.2(LPIN2):c.374C>T (p.Ser125Leu) rs542116963 0.00002
NM_001375808.2(LPIN2):c.388A>G (p.Thr130Ala) rs191101701 0.00002
NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln) rs749727482 0.00002
NM_001375808.2(LPIN2):c.1072A>G (p.Met358Val) rs1468101530 0.00001
NM_001375808.2(LPIN2):c.1082C>T (p.Ala361Val) rs767142433 0.00001
NM_001375808.2(LPIN2):c.1109C>T (p.Ala370Val) rs771059835 0.00001
NM_001375808.2(LPIN2):c.1115C>T (p.Ala372Val) rs201830346 0.00001
NM_001375808.2(LPIN2):c.1199C>T (p.Pro400Leu) rs1215786797 0.00001
NM_001375808.2(LPIN2):c.125G>C (p.Ser42Thr) rs201473097 0.00001
NM_001375808.2(LPIN2):c.131A>G (p.Gln44Arg) rs747502342 0.00001
NM_001375808.2(LPIN2):c.1492T>C (p.Phe498Leu) rs876660986 0.00001
NM_001375808.2(LPIN2):c.1544A>G (p.Tyr515Cys) rs746027036 0.00001
NM_001375808.2(LPIN2):c.1549C>T (p.Arg517Cys) rs781071052 0.00001
NM_001375808.2(LPIN2):c.1631A>G (p.Glu544Gly) rs760055156 0.00001
NM_001375808.2(LPIN2):c.1664C>G (p.Ser555Cys) rs773514460 0.00001
NM_001375808.2(LPIN2):c.1710+3A>G rs1007627972 0.00001
NM_001375808.2(LPIN2):c.1712T>A (p.Leu571Gln) rs142392384 0.00001
NM_001375808.2(LPIN2):c.1720T>A (p.Ser574Thr) rs148779863 0.00001
NM_001375808.2(LPIN2):c.1745C>T (p.Pro582Leu) rs755110304 0.00001
NM_001375808.2(LPIN2):c.1840G>A (p.Glu614Lys) rs765017173 0.00001
NM_001375808.2(LPIN2):c.191T>C (p.Val64Ala) rs754730690 0.00001
NM_001375808.2(LPIN2):c.1930G>A (p.Asp644Asn) rs779176377 0.00001
NM_001375808.2(LPIN2):c.1938+4A>G rs1397526157 0.00001
NM_001375808.2(LPIN2):c.1975G>A (p.Val659Met) rs948057549 0.00001
NM_001375808.2(LPIN2):c.2090C>T (p.Ser697Leu) rs754622332 0.00001
NM_001375808.2(LPIN2):c.2171A>G (p.Asn724Ser) rs140915714 0.00001
NM_001375808.2(LPIN2):c.2224G>A (p.Asp742Asn) rs779538504 0.00001
NM_001375808.2(LPIN2):c.2234G>A (p.Arg745His) rs1222370431 0.00001
NM_001375808.2(LPIN2):c.223G>A (p.Asp75Asn) rs750411797 0.00001
NM_001375808.2(LPIN2):c.2291T>G (p.Met764Arg) rs2077063217 0.00001
NM_001375808.2(LPIN2):c.2317G>A (p.Ala773Thr) rs750526323 0.00001
NM_001375808.2(LPIN2):c.2327+4C>T rs1344450204 0.00001
NM_001375808.2(LPIN2):c.2327+6T>A rs1334564990 0.00001
NM_001375808.2(LPIN2):c.2494G>A (p.Val832Met) rs773309322 0.00001
NM_001375808.2(LPIN2):c.2547-1G>A rs145858312 0.00001
NM_001375808.2(LPIN2):c.2612C>T (p.Ala871Val) rs1210159824 0.00001
NM_001375808.2(LPIN2):c.2617C>A (p.Pro873Thr) rs757315664 0.00001
NM_001375808.2(LPIN2):c.2678A>G (p.Asp893Gly) rs1830594288 0.00001
NM_001375808.2(LPIN2):c.361C>T (p.Pro121Ser) rs142161739 0.00001
NM_001375808.2(LPIN2):c.418G>A (p.Val140Ile) rs751024451 0.00001
NM_001375808.2(LPIN2):c.496A>G (p.Ser166Gly) rs1187367177 0.00001
NM_001375808.2(LPIN2):c.577G>A (p.Ala193Thr) rs539324906 0.00001
NM_001375808.2(LPIN2):c.751C>T (p.Pro251Ser) rs1350091087 0.00001
NM_001375808.2(LPIN2):c.755C>T (p.Ala252Val) rs774296727 0.00001
NM_001375808.2(LPIN2):c.766C>A (p.Leu256Ile) rs765149855 0.00001
NM_001375808.2(LPIN2):c.777G>T (p.Glu259Asp) rs772512144 0.00001
NM_001375808.2(LPIN2):c.802G>A (p.Gly268Arg) rs755432834 0.00001
NM_001375808.2(LPIN2):c.896G>A (p.Arg299Gln) rs766189065 0.00001
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg) rs139798681 0.00001
NM_001375808.2(LPIN2):c.944C>T (p.Ala315Val) rs777659252 0.00001
NM_001375808.2(LPIN2):c.997G>C (p.Gly333Arg) rs531715581 0.00001
NC_000018.9:g.(?_2784428)_(2921665_?)dup
NC_000018.9:g.(?_2920271)_(2931461_?)del
NC_000018.9:g.(?_2920271)_(2960858_?)dup
NC_000018.9:g.(?_2920291)_(2940730_?)del
NC_000018.9:g.(?_2920291)_(3457938_?)dup
NM_001375808.2(LPIN2):c.1010G>C (p.Ser337Thr) rs563019654
NM_001375808.2(LPIN2):c.1049T>G (p.Leu350Arg) rs2144195296
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln) rs2077310038
NM_001375808.2(LPIN2):c.1061A>G (p.Gln354Arg)
NM_001375808.2(LPIN2):c.1073T>C (p.Met358Thr) rs2077309425
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu) rs2143203306
NM_001375808.2(LPIN2):c.1145T>G (p.Val382Gly) rs751176955
NM_001375808.2(LPIN2):c.1169G>C (p.Gly390Ala) rs761918167
NM_001375808.2(LPIN2):c.1176C>A (p.His392Gln) rs774569139
NM_001375808.2(LPIN2):c.1201G>C (p.Asp401His)
NM_001375808.2(LPIN2):c.1203T>G (p.Asp401Glu) rs1018736752
NM_001375808.2(LPIN2):c.1228G>C (p.Gly410Arg)
NM_001375808.2(LPIN2):c.1229G>A (p.Gly410Asp) rs2077255674
NM_001375808.2(LPIN2):c.1229G>T (p.Gly410Val)
NM_001375808.2(LPIN2):c.1268+6G>A
NM_001375808.2(LPIN2):c.1291C>A (p.Gln431Lys)
NM_001375808.2(LPIN2):c.1312C>T (p.Leu438Phe) rs138079183
NM_001375808.2(LPIN2):c.1315T>C (p.Ser439Pro) rs1555673672
NM_001375808.2(LPIN2):c.1322C>A (p.Ser441Tyr) rs2077211393
NM_001375808.2(LPIN2):c.1322C>G (p.Ser441Cys) rs2077211393
NM_001375808.2(LPIN2):c.133T>G (p.Cys45Gly) rs2143202250
NM_001375808.2(LPIN2):c.1369G>A (p.Glu457Lys)
NM_001375808.2(LPIN2):c.1390A>G (p.Met464Val) rs2077210318
NM_001375808.2(LPIN2):c.1399C>T (p.Pro467Ser) rs2144161696
NM_001375808.2(LPIN2):c.1417C>A (p.Leu473Ile)
NM_001375808.2(LPIN2):c.1423G>A (p.Gly475Arg) rs2077209843
NM_001375808.2(LPIN2):c.1442G>C (p.Gly481Ala) rs377661526
NM_001375808.2(LPIN2):c.1456+5G>A rs767379049
NM_001375808.2(LPIN2):c.1456+5G>T
NM_001375808.2(LPIN2):c.1504C>G (p.Pro502Ala) rs2077177749
NM_001375808.2(LPIN2):c.1522C>T (p.Pro508Ser) rs1598528577
NM_001375808.2(LPIN2):c.1547A>G (p.Asn516Ser) rs2144150580
NM_001375808.2(LPIN2):c.154T>G (p.Phe52Val)
NM_001375808.2(LPIN2):c.1596A>C (p.Gln532His)
NM_001375808.2(LPIN2):c.1669C>T (p.Arg557Cys)
NM_001375808.2(LPIN2):c.1711C>T (p.Leu571=) rs151293770
NM_001375808.2(LPIN2):c.1749_1781del (p.Ser585_Ala595del)
NM_001375808.2(LPIN2):c.1754G>C (p.Ser585Thr) rs2077137787
NM_001375808.2(LPIN2):c.1775A>G (p.Lys592Arg) rs2077137437
NM_001375808.2(LPIN2):c.1783G>T (p.Ala595Ser)
NM_001375808.2(LPIN2):c.1809CTC[1] (p.Ser606del)
NM_001375808.2(LPIN2):c.1811C>A (p.Ser604Tyr)
NM_001375808.2(LPIN2):c.1864A>T (p.Ile622Phe)
NM_001375808.2(LPIN2):c.1877C>T (p.Pro626Leu) rs2144132938
NM_001375808.2(LPIN2):c.1894A>C (p.Thr632Pro)
NM_001375808.2(LPIN2):c.1894A>G (p.Thr632Ala)
NM_001375808.2(LPIN2):c.1901C>T (p.Ser634Leu)
NM_001375808.2(LPIN2):c.1940C>T (p.Ala647Val) rs2077102755
NM_001375808.2(LPIN2):c.1954C>T (p.His652Tyr)
NM_001375808.2(LPIN2):c.195T>A (p.Ile65=) rs2077582494
NM_001375808.2(LPIN2):c.1985T>C (p.Ile662Thr)
NM_001375808.2(LPIN2):c.199A>G (p.Ile67Val) rs1448362269
NM_001375808.2(LPIN2):c.2006C>T (p.Thr669Ile)
NM_001375808.2(LPIN2):c.2053A>G (p.Ile685Val)
NM_001375808.2(LPIN2):c.2060T>C (p.Ile687Thr)
NM_001375808.2(LPIN2):c.2088G>A (p.Lys696=) rs778440902
NM_001375808.2(LPIN2):c.2135C>T (p.Thr712Ile)
NM_001375808.2(LPIN2):c.2183A>G (p.Tyr728Cys) rs1335621701
NM_001375808.2(LPIN2):c.2189T>C (p.Phe730Ser) rs2077065305
NM_001375808.2(LPIN2):c.2237G>A (p.Gly746Asp) rs1555672260
NM_001375808.2(LPIN2):c.2246A>G (p.His749Arg) rs1598519554
NM_001375808.2(LPIN2):c.2265C>T (p.Gly755=) rs2144118754
NM_001375808.2(LPIN2):c.2279G>A (p.Arg760Gln) rs2077063454
NM_001375808.2(LPIN2):c.2336T>C (p.Ile779Thr) rs2077055890
NM_001375808.2(LPIN2):c.2348C>T (p.Pro783Leu) rs2144116602
NM_001375808.2(LPIN2):c.2353A>G (p.Lys785Glu)
NM_001375808.2(LPIN2):c.2358C>A (p.Phe786Leu)
NM_001375808.2(LPIN2):c.2385G>C (p.Lys795Asn) rs775976047
NM_001375808.2(LPIN2):c.2396C>T (p.Ala799Val) rs2077055023
NM_001375808.2(LPIN2):c.2398C>A (p.Pro800Thr)
NM_001375808.2(LPIN2):c.2409G>C (p.Gln803His) rs876660987
NM_001375808.2(LPIN2):c.241G>A (p.Gly81Ser) rs2143138290
NM_001375808.2(LPIN2):c.2428G>A (p.Gly810Arg)
NM_001375808.2(LPIN2):c.2456A>G (p.Tyr819Cys)
NM_001375808.2(LPIN2):c.2458A>G (p.Thr820Ala) rs2077043149
NM_001375808.2(LPIN2):c.2531A>G (p.Lys844Arg) rs2077042167
NM_001375808.2(LPIN2):c.2537A>C (p.Asn846Thr) rs1251007885
NM_001375808.2(LPIN2):c.2566C>T (p.Leu856Phe) rs200839841
NM_001375808.2(LPIN2):c.2569G>A (p.Val857Met)
NM_001375808.2(LPIN2):c.2569G>T (p.Val857Leu) rs1346809433
NM_001375808.2(LPIN2):c.2579T>C (p.Val860Ala)
NM_001375808.2(LPIN2):c.2583C>A (p.Phe861Leu)
NM_001375808.2(LPIN2):c.2594G>A (p.Ser865Asn) rs1398896345
NM_001375808.2(LPIN2):c.2597A>G (p.Lys866Arg)
NM_001375808.2(LPIN2):c.2617C>T (p.Pro873Ser)
NM_001375808.2(LPIN2):c.2621G>A (p.Cys874Tyr) rs201160155
NM_001375808.2(LPIN2):c.2623C>A (p.Pro875Thr) rs2077035373
NM_001375808.2(LPIN2):c.2639_2641del (p.Phe880del) rs755987482
NM_001375808.2(LPIN2):c.2640C>G (p.Phe880Leu)
NM_001375808.2(LPIN2):c.2649G>A (p.Trp883Ter)
NM_001375808.2(LPIN2):c.2656C>G (p.Pro886Ala) rs1470910142
NM_001375808.2(LPIN2):c.2686T>A (p.Ser896Thr)
NM_001375808.2(LPIN2):c.26G>A (p.Gly9Glu)
NM_001375808.2(LPIN2):c.325C>T (p.Pro109Ser) rs2077534072
NM_001375808.2(LPIN2):c.350A>C (p.Asp117Ala)
NM_001375808.2(LPIN2):c.359C>A (p.Thr120Asn) rs562075898
NM_001375808.2(LPIN2):c.374C>G (p.Ser125Trp) rs542116963
NM_001375808.2(LPIN2):c.410T>C (p.Ile137Thr) rs2077531992
NM_001375808.2(LPIN2):c.413C>T (p.Ser138Leu)
NM_001375808.2(LPIN2):c.434C>T (p.Thr145Ile)
NM_001375808.2(LPIN2):c.445C>T (p.Pro149Ser) rs376661021
NM_001375808.2(LPIN2):c.523G>C (p.Ala175Pro) rs1334969199
NM_001375808.2(LPIN2):c.542G>A (p.Cys181Tyr)
NM_001375808.2(LPIN2):c.562G>A (p.Asp188Asn)
NM_001375808.2(LPIN2):c.578C>T (p.Ala193Val) rs1290039087
NM_001375808.2(LPIN2):c.584C>G (p.Ala195Gly) rs1226336598
NM_001375808.2(LPIN2):c.590+5dup rs2077527998
NM_001375808.2(LPIN2):c.590G>A (p.Arg197Gln) rs753918449
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp) rs746938405
NM_001375808.2(LPIN2):c.608C>A (p.Ser203Tyr)
NM_001375808.2(LPIN2):c.616GAA[2] (p.Glu208del) rs749710348
NM_001375808.2(LPIN2):c.629A>G (p.Lys210Arg)
NM_001375808.2(LPIN2):c.634C>T (p.Pro212Ser)
NM_001375808.2(LPIN2):c.650C>G (p.Ser217Cys) rs2144209857
NM_001375808.2(LPIN2):c.658_660del (p.His220del) rs761910090
NM_001375808.2(LPIN2):c.659A>G (p.His220Arg)
NM_001375808.2(LPIN2):c.698C>A (p.Thr233Asn) rs139654849
NM_001375808.2(LPIN2):c.700A>G (p.Thr234Ala)
NM_001375808.2(LPIN2):c.71A>G (p.Gln24Arg) rs1568575278
NM_001375808.2(LPIN2):c.751C>A (p.Pro251Thr) rs1350091087
NM_001375808.2(LPIN2):c.77C>T (p.Thr26Ile)
NM_001375808.2(LPIN2):c.79C>G (p.Leu27Val)
NM_001375808.2(LPIN2):c.830A>G (p.Lys277Arg) rs1171826173
NM_001375808.2(LPIN2):c.842C>G (p.Ser281Cys) rs2144196740
NM_001375808.2(LPIN2):c.853C>T (p.Pro285Ser)
NM_001375808.2(LPIN2):c.863C>T (p.Ala288Val) rs766692933
NM_001375808.2(LPIN2):c.865A>G (p.Thr289Ala)
NM_001375808.2(LPIN2):c.895C>T (p.Arg299Trp)
NM_001375808.2(LPIN2):c.934G>C (p.Glu312Gln)
NM_001375808.2(LPIN2):c.970A>T (p.Ile324Leu) rs1476358117

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