ClinVar Miner

List of variants in gene LARGE1 reported as likely benign for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 450
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.*1235A>G rs1801820 0.00578
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.409-19C>T rs374692757 0.00041
NM_133642.5(LARGE1):c.*796C>T rs144150303 0.00035
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_133642.5(LARGE1):c.492-11A>G rs142978441 0.00023
NM_133642.5(LARGE1):c.651T>A (p.Ser217=) rs143547253 0.00022
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=) rs368231947 0.00017
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=) rs114246562 0.00011
NM_133642.5(LARGE1):c.708G>A (p.Glu236=) rs202028671 0.00011
NM_133642.5(LARGE1):c.787+14del rs757463406 0.00011
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) rs369773678 0.00010
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) rs201977889 0.00009
NM_133642.5(LARGE1):c.1131+12A>T rs377316838 0.00008
NM_133642.5(LARGE1):c.1005+17G>A rs371887551 0.00006
NM_133642.5(LARGE1):c.1578C>T (p.Arg526=) rs200229228 0.00006
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=) rs113492643 0.00006
NM_133642.5(LARGE1):c.252C>T (p.Ser84=) rs56202589 0.00006
NM_133642.5(LARGE1):c.534G>C (p.Ala178=) rs772655607 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=) rs398124182 0.00004
NM_133642.5(LARGE1):c.1287+11C>T rs398124183 0.00004
NM_133642.5(LARGE1):c.1451+11C>T rs201322547 0.00004
NM_133642.5(LARGE1):c.1746G>A (p.Gln582=) rs114161191 0.00004
NM_133642.5(LARGE1):c.1941G>A (p.Thr647=) rs770327327 0.00004
NM_133642.5(LARGE1):c.201G>C (p.Val67=) rs135312 0.00004
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys) rs373853930 0.00004
NM_133642.5(LARGE1):c.703C>T (p.Leu235=) rs376057149 0.00004
NM_133642.5(LARGE1):c.81T>A (p.Ile27=) rs145861048 0.00004
NM_133642.5(LARGE1):c.1020C>T (p.Ala340=) rs927885509 0.00003
NM_133642.5(LARGE1):c.1098C>G (p.Ser366=) rs770224674 0.00003
NM_133642.5(LARGE1):c.1215G>A (p.Leu405=) rs368009890 0.00003
NM_133642.5(LARGE1):c.1623C>T (p.Tyr541=) rs370896246 0.00003
NM_133642.5(LARGE1):c.1626C>T (p.Pro542=) rs775137166 0.00003
NM_133642.5(LARGE1):c.1704C>T (p.Pro568=) rs768746727 0.00003
NM_133642.5(LARGE1):c.2136C>T (p.Phe712=) rs767177452 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_133642.5(LARGE1):c.2226C>T (p.Tyr742=) rs777773303 0.00003
NM_133642.5(LARGE1):c.409-18G>A rs774311766 0.00003
NM_133642.5(LARGE1):c.417C>T (p.His139=) rs115575249 0.00003
NM_133642.5(LARGE1):c.491+11C>G rs781066281 0.00003
NM_133642.5(LARGE1):c.63C>A (p.Ile21=) rs759218415 0.00003
NM_133642.5(LARGE1):c.957C>T (p.Thr319=) rs778094231 0.00003
NM_133642.5(LARGE1):c.107-8C>T rs1006989010 0.00002
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_133642.5(LARGE1):c.1287+12G>A rs370541163 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=) rs751341620 0.00002
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=) rs368632863 0.00002
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=) rs1000835027 0.00002
NM_133642.5(LARGE1):c.408+7G>A rs371246157 0.00002
NM_133642.5(LARGE1):c.45G>A (p.Ser15=) rs752560976 0.00002
NM_133642.5(LARGE1):c.492-8C>T rs764180554 0.00002
NM_133642.5(LARGE1):c.606C>T (p.Asp202=) rs759394642 0.00002
NM_133642.5(LARGE1):c.615+8C>T rs587783731 0.00002
NM_133642.5(LARGE1):c.1005+12G>T rs1030394513 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.1006-14C>T rs1197844730 0.00001
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=) rs369877399 0.00001
NM_133642.5(LARGE1):c.1080G>A (p.Leu360=) rs774412531 0.00001
NM_133642.5(LARGE1):c.117C>T (p.Pro39=) rs140622529 0.00001
NM_133642.5(LARGE1):c.1182G>C (p.Val394=) rs751250015 0.00001
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=) rs748508322 0.00001
NM_133642.5(LARGE1):c.1287+13C>T rs759768595 0.00001
NM_133642.5(LARGE1):c.1288-8C>T rs768000708 0.00001
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=) rs755991003 0.00001
NM_133642.5(LARGE1):c.1451+12G>A rs1029660389 0.00001
NM_133642.5(LARGE1):c.1462C>T (p.Leu488=) rs759041475 0.00001
NM_133642.5(LARGE1):c.1557C>T (p.Gly519=) rs763782820 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=) rs749791648 0.00001
NM_133642.5(LARGE1):c.1833G>A (p.Ala611=) rs775318098 0.00001
NM_133642.5(LARGE1):c.1878-12C>T rs535915450 0.00001
NM_133642.5(LARGE1):c.1893G>A (p.Thr631=) rs138011042 0.00001
NM_133642.5(LARGE1):c.1902C>T (p.His634=) rs754149838 0.00001
NM_133642.5(LARGE1):c.1932C>T (p.Thr644=) rs764884886 0.00001
NM_133642.5(LARGE1):c.2074-6T>C rs775368005 0.00001
NM_133642.5(LARGE1):c.219G>A (p.Glu73=) rs2080766768 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.276C>T (p.Ser92=) rs759755959 0.00001
NM_133642.5(LARGE1):c.321C>A (p.Gly107=) rs776598184 0.00001
NM_133642.5(LARGE1):c.333C>T (p.Ser111=) rs746767821 0.00001
NM_133642.5(LARGE1):c.34T>C (p.Leu12=) rs1320102818 0.00001
NM_133642.5(LARGE1):c.393C>G (p.Val131=) rs776024597 0.00001
NM_133642.5(LARGE1):c.459C>T (p.Val153=) rs199822331 0.00001
NM_133642.5(LARGE1):c.477C>T (p.Ser159=) rs150283131 0.00001
NM_133642.5(LARGE1):c.492-10C>T rs1452229191 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.546G>A (p.Leu182=) rs755661957 0.00001
NM_133642.5(LARGE1):c.597C>T (p.Tyr199=) rs996648375 0.00001
NM_133642.5(LARGE1):c.664C>T (p.Leu222=) rs148889570 0.00001
NM_133642.5(LARGE1):c.717C>T (p.Ile239=) rs761927446 0.00001
NM_133642.5(LARGE1):c.729G>A (p.Thr243=) rs1176140640 0.00001
NM_133642.5(LARGE1):c.787+14A>T rs776201139 0.00001
NM_133642.5(LARGE1):c.822T>C (p.Ser274=) rs1443538111 0.00001
NM_133642.5(LARGE1):c.893-9G>A rs758531510 0.00001
NM_133642.5(LARGE1):c.904T>C (p.Leu302=) rs755445182 0.00001
NM_133642.5(LARGE1):c.942G>A (p.Gln314=) rs776701293 0.00001
NM_133642.5(LARGE1):c.1005+11A>G
NM_133642.5(LARGE1):c.1005+13G>T
NM_133642.5(LARGE1):c.1005+17G>T
NM_133642.5(LARGE1):c.1005+9C>G
NM_133642.5(LARGE1):c.1006-11del
NM_133642.5(LARGE1):c.1006-20C>T
NM_133642.5(LARGE1):c.1006-4C>T
NM_133642.5(LARGE1):c.1006-5C>T rs977498462
NM_133642.5(LARGE1):c.1006-6C>T
NM_133642.5(LARGE1):c.1006-7C>A
NM_133642.5(LARGE1):c.1014C>T (p.Phe338=) rs758924905
NM_133642.5(LARGE1):c.1029A>G (p.Lys343=)
NM_133642.5(LARGE1):c.102C>T (p.Phe34=)
NM_133642.5(LARGE1):c.1047G>A (p.Val349=)
NM_133642.5(LARGE1):c.1050C>T (p.Tyr350=)
NM_133642.5(LARGE1):c.106+10G>A
NM_133642.5(LARGE1):c.106+14C>T
NM_133642.5(LARGE1):c.106+7A>G
NM_133642.5(LARGE1):c.107-11T>C
NM_133642.5(LARGE1):c.107-19C>G
NM_133642.5(LARGE1):c.107-6C>T
NM_133642.5(LARGE1):c.107-7T>C
NM_133642.5(LARGE1):c.107-9G>A
NM_133642.5(LARGE1):c.1095C>A (p.Arg365=) rs775639749
NM_133642.5(LARGE1):c.1095C>T (p.Arg365=)
NM_133642.5(LARGE1):c.1098C>T (p.Ser366=)
NM_133642.5(LARGE1):c.1110C>T (p.Tyr370=)
NM_133642.5(LARGE1):c.1113A>G (p.Arg371=)
NM_133642.5(LARGE1):c.1119G>C (p.Val373=)
NM_133642.5(LARGE1):c.1126C>T (p.Leu376=)
NM_133642.5(LARGE1):c.1131+10A>T
NM_133642.5(LARGE1):c.1131+11C>T
NM_133642.5(LARGE1):c.1131+15G>C
NM_133642.5(LARGE1):c.1131+16G>T
NM_133642.5(LARGE1):c.1131+17G>A
NM_133642.5(LARGE1):c.1132-10T>C
NM_133642.5(LARGE1):c.1132-11C>G
NM_133642.5(LARGE1):c.1132-16del
NM_133642.5(LARGE1):c.1132-4C>A
NM_133642.5(LARGE1):c.1132-4C>T
NM_133642.5(LARGE1):c.1132-5G>T
NM_133642.5(LARGE1):c.1140C>T (p.His380=)
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=)
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=) rs1431706655
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=)
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=) rs982770696
NM_133642.5(LARGE1):c.120G>A (p.Val40=)
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=)
NM_133642.5(LARGE1):c.123T>A (p.Ser41=)
NM_133642.5(LARGE1):c.123T>C (p.Ser41=)
NM_133642.5(LARGE1):c.1242G>A (p.Arg414=)
NM_133642.5(LARGE1):c.124C>T (p.Leu42=)
NM_133642.5(LARGE1):c.1254C>T (p.Gly418=)
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=)
NM_133642.5(LARGE1):c.1287+12G>T rs370541163
NM_133642.5(LARGE1):c.1287+15_1287+16insGGCTCGCAAAA
NM_133642.5(LARGE1):c.1287+17G>T
NM_133642.5(LARGE1):c.1287+19T>C
NM_133642.5(LARGE1):c.1288-10T>C
NM_133642.5(LARGE1):c.1288-12C>G
NM_133642.5(LARGE1):c.1288-18C>G rs750499971
NM_133642.5(LARGE1):c.1288-18C>T
NM_133642.5(LARGE1):c.1288-19C>A rs1263961982
NM_133642.5(LARGE1):c.1288-6C>G
NM_133642.5(LARGE1):c.1288-6C>T
NM_133642.5(LARGE1):c.129A>G (p.Ser43=)
NM_133642.5(LARGE1):c.132G>A (p.Pro44=)
NM_133642.5(LARGE1):c.132G>C (p.Pro44=)
NM_133642.5(LARGE1):c.132G>T (p.Pro44=)
NM_133642.5(LARGE1):c.1371C>T (p.His457=)
NM_133642.5(LARGE1):c.1372C>T (p.Leu458=)
NM_133642.5(LARGE1):c.1374G>A (p.Leu458=)
NM_133642.5(LARGE1):c.1380C>T (p.Phe460=) rs764722483
NM_133642.5(LARGE1):c.1381C>T (p.Leu461=) rs2146303992
NM_133642.5(LARGE1):c.1383G>A (p.Leu461=)
NM_133642.5(LARGE1):c.1392G>A (p.Glu464=)
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=)
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)
NM_133642.5(LARGE1):c.1431C>G (p.Val477=) rs987466965
NM_133642.5(LARGE1):c.1434T>G (p.Ala478=) rs2146303266
NM_133642.5(LARGE1):c.1440G>A (p.Leu480=)
NM_133642.5(LARGE1):c.1451+12G>C
NM_133642.5(LARGE1):c.1451+13G>A
NM_133642.5(LARGE1):c.1451+9G>C
NM_133642.5(LARGE1):c.1452-13C>T
NM_133642.5(LARGE1):c.1452-13dup
NM_133642.5(LARGE1):c.1452-19C>T
NM_133642.5(LARGE1):c.1452-9C>A
NM_133642.5(LARGE1):c.1464G>A (p.Leu488=) rs1361522471
NM_133642.5(LARGE1):c.1473C>A (p.Ile491=) rs1602325498
NM_133642.5(LARGE1):c.1488G>A (p.Glu496=)
NM_133642.5(LARGE1):c.1497C>T (p.Ile499=)
NM_133642.5(LARGE1):c.1501C>T (p.Leu501=)
NM_133642.5(LARGE1):c.1503G>C (p.Leu501=)
NM_133642.5(LARGE1):c.1503G>T (p.Leu501=) rs1323217190
NM_133642.5(LARGE1):c.1512C>T (p.Tyr504=) rs1602325222
NM_133642.5(LARGE1):c.1521C>T (p.Asp507=) rs1312649028
NM_133642.5(LARGE1):c.1524C>T (p.Ala508=) rs747233486
NM_133642.5(LARGE1):c.1536G>A (p.Gln512=)
NM_133642.5(LARGE1):c.1539C>T (p.Phe513=)
NM_133642.5(LARGE1):c.153C>T (p.Ser51=)
NM_133642.5(LARGE1):c.1545C>G (p.Arg515=)
NM_133642.5(LARGE1):c.1551A>G (p.Ala517=) rs2146165347
NM_133642.5(LARGE1):c.1554G>A (p.Gln518=)
NM_133642.5(LARGE1):c.1566G>A (p.Val522=)
NM_133642.5(LARGE1):c.1593C>T (p.Tyr531=) rs1001705325
NM_133642.5(LARGE1):c.159G>A (p.Arg53=) rs778498257
NM_133642.5(LARGE1):c.15C>T (p.Cys5=)
NM_133642.5(LARGE1):c.1602G>A (p.Val534=)
NM_133642.5(LARGE1):c.1617G>A (p.Gln539=) rs2146164178
NM_133642.5(LARGE1):c.1626C>G (p.Pro542=)
NM_133642.5(LARGE1):c.1636C>T (p.Leu546=)
NM_133642.5(LARGE1):c.1638G>A (p.Leu546=)
NM_133642.5(LARGE1):c.1656G>A (p.Lys552=) rs138573955
NM_133642.5(LARGE1):c.1659C>T (p.His553=)
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=) rs2146163430
NM_133642.5(LARGE1):c.16A>C (p.Arg6=) rs886038552
NM_133642.5(LARGE1):c.1728C>T (p.Leu576=)
NM_133642.5(LARGE1):c.1730+13A>G
NM_133642.5(LARGE1):c.1730+16G>A
NM_133642.5(LARGE1):c.1730+7A>G
NM_133642.5(LARGE1):c.1730+8C>T rs201267374
NM_133642.5(LARGE1):c.1731-10C>A
NM_133642.5(LARGE1):c.1731-11C>A
NM_133642.5(LARGE1):c.1731-17C>T
NM_133642.5(LARGE1):c.1731-18C>T
NM_133642.5(LARGE1):c.1731-8_1731-7del
NM_133642.5(LARGE1):c.1731-9T>C
NM_133642.5(LARGE1):c.1761C>T (p.Asn587=)
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.1788G>T (p.Ala596=) rs74550830
NM_133642.5(LARGE1):c.1812G>A (p.Leu604=)
NM_133642.5(LARGE1):c.1818C>T (p.Phe606=)
NM_133642.5(LARGE1):c.1821C>G (p.Pro607=)
NM_133642.5(LARGE1):c.183G>A (p.Glu61=) rs2149183104
NM_133642.5(LARGE1):c.1842G>A (p.Leu614=)
NM_133642.5(LARGE1):c.1851G>A (p.Leu617=)
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=) rs1602229376
NM_133642.5(LARGE1):c.1869C>T (p.Phe623=)
NM_133642.5(LARGE1):c.186C>G (p.Arg62=) rs535793068
NM_133642.5(LARGE1):c.186C>T (p.Arg62=)
NM_133642.5(LARGE1):c.1877+11C>G
NM_133642.5(LARGE1):c.1877+12T>C
NM_133642.5(LARGE1):c.1877+13A>G
NM_133642.5(LARGE1):c.1877+16T>C
NM_133642.5(LARGE1):c.1877+17G>A
NM_133642.5(LARGE1):c.1877+17G>C
NM_133642.5(LARGE1):c.1877+20G>A
NM_133642.5(LARGE1):c.1877+8del
NM_133642.5(LARGE1):c.1878-11G>A
NM_133642.5(LARGE1):c.1878-11GT[2]
NM_133642.5(LARGE1):c.1878-13C>T
NM_133642.5(LARGE1):c.1878-4T>A rs2145832389
NM_133642.5(LARGE1):c.1884C>T (p.His628=) rs78223631
NM_133642.5(LARGE1):c.1893G>T (p.Thr631=) rs138011042
NM_133642.5(LARGE1):c.189G>A (p.Glu63=) rs1602978054
NM_133642.5(LARGE1):c.1905A>G (p.Ala635=) rs756255025
NM_133642.5(LARGE1):c.1914C>T (p.Asn638=)
NM_133642.5(LARGE1):c.1920C>A (p.Ala640=) rs2145831959
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=)
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=)
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=)
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=)
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) rs768565081
NM_133642.5(LARGE1):c.198G>A (p.Glu66=)
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=)
NM_133642.5(LARGE1):c.2010C>T (p.Tyr670=)
NM_133642.5(LARGE1):c.2034C>G (p.Gly678=)
NM_133642.5(LARGE1):c.2046G>A (p.Val682=)
NM_133642.5(LARGE1):c.204C>T (p.Arg68=)
NM_133642.5(LARGE1):c.2052T>C (p.His684=)
NM_133642.5(LARGE1):c.2064G>A (p.Leu688=)
NM_133642.5(LARGE1):c.2073+12G>T rs377566674
NM_133642.5(LARGE1):c.2073+13G>T
NM_133642.5(LARGE1):c.2073+16C>A
NM_133642.5(LARGE1):c.2073+20C>T
NM_133642.5(LARGE1):c.2074-11T>C
NM_133642.5(LARGE1):c.2074-12G>T
NM_133642.5(LARGE1):c.2074-16T>A
NM_133642.5(LARGE1):c.2074-18G>A rs1928830929
NM_133642.5(LARGE1):c.2074-18G>C
NM_133642.5(LARGE1):c.2074-18G>T
NM_133642.5(LARGE1):c.2074-3del rs2145803199
NM_133642.5(LARGE1):c.2074-4C>G
NM_133642.5(LARGE1):c.2074-7C>T
NM_133642.5(LARGE1):c.2074-8T>G rs2145803317
NM_133642.5(LARGE1):c.2079T>C (p.Tyr693=) rs996290544
NM_133642.5(LARGE1):c.2091G>A (p.Val697=) rs2145802982
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)
NM_133642.5(LARGE1):c.2130C>T (p.Pro710=)
NM_133642.5(LARGE1):c.2133C>T (p.Ser711=)
NM_133642.5(LARGE1):c.2139C>T (p.Asp713=)
NM_133642.5(LARGE1):c.2142T>C (p.Ile714=) rs1358320451
NM_133642.5(LARGE1):c.2148G>A (p.Lys716=) rs1602189714
NM_133642.5(LARGE1):c.2160C>T (p.Asn720=)
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)
NM_133642.5(LARGE1):c.216G>T (p.Val72=) rs567998643
NM_133642.5(LARGE1):c.2181C>G (p.Leu727=)
NM_133642.5(LARGE1):c.2190C>T (p.Leu730=)
NM_133642.5(LARGE1):c.2196A>G (p.Glu732=)
NM_133642.5(LARGE1):c.21G>A (p.Gly7=)
NM_133642.5(LARGE1):c.21G>T (p.Gly7=) rs2084726573
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=) rs1406330296
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)
NM_133642.5(LARGE1):c.225G>A (p.Glu75=)
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)
NM_133642.5(LARGE1):c.231C>T (p.Arg77=)
NM_133642.5(LARGE1):c.234C>T (p.Ala78=)
NM_133642.5(LARGE1):c.237C>T (p.Leu79=)
NM_133642.5(LARGE1):c.241A>C (p.Arg81=)
NM_133642.5(LARGE1):c.24A>G (p.Arg8=)
NM_133642.5(LARGE1):c.255G>A (p.Leu85=)
NM_133642.5(LARGE1):c.276C>G (p.Ser92=)
NM_133642.5(LARGE1):c.27G>A (p.Arg9=) rs2145729287
NM_133642.5(LARGE1):c.297C>T (p.Ser99=)
NM_133642.5(LARGE1):c.303C>T (p.Thr101=)
NM_133642.5(LARGE1):c.321C>T (p.Gly107=)
NM_133642.5(LARGE1):c.336G>A (p.Glu112=) rs1555983855
NM_133642.5(LARGE1):c.351C>T (p.Gly117=)
NM_133642.5(LARGE1):c.354C>T (p.Ile118=)
NM_133642.5(LARGE1):c.357G>T (p.Val119=)
NM_133642.5(LARGE1):c.36G>A (p.Leu12=) rs1601552169
NM_133642.5(LARGE1):c.372C>T (p.Ser124=)
NM_133642.5(LARGE1):c.390G>A (p.Pro130=) rs114558328
NM_133642.5(LARGE1):c.405C>T (p.Cys135=)
NM_133642.5(LARGE1):c.408+17G>A
NM_133642.5(LARGE1):c.408+18C>T
NM_133642.5(LARGE1):c.408+19C>T
NM_133642.5(LARGE1):c.409-15T>A
NM_133642.5(LARGE1):c.409-16C>T
NM_133642.5(LARGE1):c.420T>C (p.Val140=)
NM_133642.5(LARGE1):c.426T>C (p.Ile142=) rs745996591
NM_133642.5(LARGE1):c.438A>C (p.Gly146=)
NM_133642.5(LARGE1):c.447C>G (p.Ala149=)
NM_133642.5(LARGE1):c.45G>T (p.Ser15=)
NM_133642.5(LARGE1):c.465C>T (p.Thr155=)
NM_133642.5(LARGE1):c.468G>C (p.Leu156=)
NM_133642.5(LARGE1):c.483G>A (p.Leu161=) rs987732719
NM_133642.5(LARGE1):c.491+11C>T rs781066281
NM_133642.5(LARGE1):c.491+14C>A
NM_133642.5(LARGE1):c.491+14C>G
NM_133642.5(LARGE1):c.491+19C>G
NM_133642.5(LARGE1):c.491+19C>T
NM_133642.5(LARGE1):c.491+20T>C
NM_133642.5(LARGE1):c.491+20T>G
NM_133642.5(LARGE1):c.491+9A>G
NM_133642.5(LARGE1):c.492-14C>A rs2079201212
NM_133642.5(LARGE1):c.492-20C>T rs373205336
NM_133642.5(LARGE1):c.492-4A>G
NM_133642.5(LARGE1):c.492-5C>T
NM_133642.5(LARGE1):c.492-6C>T
NM_133642.5(LARGE1):c.495G>T (p.Arg165=)
NM_133642.5(LARGE1):c.525C>T (p.Asp175=) rs2148979372
NM_133642.5(LARGE1):c.528C>T (p.Ser176=)
NM_133642.5(LARGE1):c.534G>A (p.Ala178=)
NM_133642.5(LARGE1):c.543C>T (p.Ile181=) rs1478658613
NM_133642.5(LARGE1):c.555C>G (p.Leu185=)
NM_133642.5(LARGE1):c.573G>C (p.Val191=) rs2148979075
NM_133642.5(LARGE1):c.576C>G (p.Pro192=)
NM_133642.5(LARGE1):c.57C>T (p.Leu19=) rs1366657966
NM_133642.5(LARGE1):c.588G>A (p.Val196=)
NM_133642.5(LARGE1):c.615+10G>A
NM_133642.5(LARGE1):c.615+12A>T
NM_133642.5(LARGE1):c.615+15G>A
NM_133642.5(LARGE1):c.615+19G>A
NM_133642.5(LARGE1):c.615+7G>A
NM_133642.5(LARGE1):c.615+7dup
NM_133642.5(LARGE1):c.616-13T>G
NM_133642.5(LARGE1):c.616-14C>A
NM_133642.5(LARGE1):c.616-18C>G
NM_133642.5(LARGE1):c.616-20C>A rs1235764173
NM_133642.5(LARGE1):c.616-20C>T
NM_133642.5(LARGE1):c.616-26CT[6]
NM_133642.5(LARGE1):c.616-4C>G
NM_133642.5(LARGE1):c.616-7T>G
NM_133642.5(LARGE1):c.624T>A (p.Val208=)
NM_133642.5(LARGE1):c.639T>C (p.Asn213=)
NM_133642.5(LARGE1):c.642A>G (p.Lys214=)
NM_133642.5(LARGE1):c.660T>C (p.Tyr220=)
NM_133642.5(LARGE1):c.681G>C (p.Leu227=)
NM_133642.5(LARGE1):c.684C>G (p.Thr228=)
NM_133642.5(LARGE1):c.690T>A (p.Thr230=)
NM_133642.5(LARGE1):c.690T>C (p.Thr230=) rs753562472
NM_133642.5(LARGE1):c.696T>C (p.Pro232=)
NM_133642.5(LARGE1):c.6G>A (p.Leu2=)
NM_133642.5(LARGE1):c.705G>A (p.Leu235=)
NM_133642.5(LARGE1):c.720C>T (p.Val240=)
NM_133642.5(LARGE1):c.72C>T (p.Ile24=) rs727503994
NM_133642.5(LARGE1):c.750C>T (p.Asp250=)
NM_133642.5(LARGE1):c.756A>G (p.Ala252=)
NM_133642.5(LARGE1):c.774C>T (p.Phe258=)
NM_133642.5(LARGE1):c.780G>A (p.Lys260=)
NM_133642.5(LARGE1):c.787+11C>T
NM_133642.5(LARGE1):c.787+17C>G
NM_133642.5(LARGE1):c.787+17C>T
NM_133642.5(LARGE1):c.787+18G>A
NM_133642.5(LARGE1):c.787+20T>G
NM_133642.5(LARGE1):c.787+5T>C rs763571538
NM_133642.5(LARGE1):c.788-11G>A
NM_133642.5(LARGE1):c.788-11G>T
NM_133642.5(LARGE1):c.788-15C>T
NM_133642.5(LARGE1):c.788-17T>A rs764260251
NM_133642.5(LARGE1):c.788-17T>C
NM_133642.5(LARGE1):c.788-18A>G
NM_133642.5(LARGE1):c.788-8C>T
NM_133642.5(LARGE1):c.801G>C (p.Leu267=)
NM_133642.5(LARGE1):c.804C>A (p.Gly268=)
NM_133642.5(LARGE1):c.807G>A (p.Leu269=)
NM_133642.5(LARGE1):c.861A>G (p.Pro287=) rs1257326994
NM_133642.5(LARGE1):c.861A>T (p.Pro287=)
NM_133642.5(LARGE1):c.87G>A (p.Leu29=)
NM_133642.5(LARGE1):c.87G>C (p.Leu29=) rs2145728903
NM_133642.5(LARGE1):c.885C>T (p.Tyr295=) rs1601816355
NM_133642.5(LARGE1):c.892+11A>G
NM_133642.5(LARGE1):c.892+11_892+12del
NM_133642.5(LARGE1):c.892+19A>C
NM_133642.5(LARGE1):c.892+7C>A
NM_133642.5(LARGE1):c.892+8C>T
NM_133642.5(LARGE1):c.893-10T>C
NM_133642.5(LARGE1):c.893-13T>C
NM_133642.5(LARGE1):c.893-14G>A
NM_133642.5(LARGE1):c.893-15T>G
NM_133642.5(LARGE1):c.893-16C>T
NM_133642.5(LARGE1):c.893-19A>T
NM_133642.5(LARGE1):c.893-21_893-20del
NM_133642.5(LARGE1):c.893-7T>C
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_133642.5(LARGE1):c.912G>A (p.Leu304=)
NM_133642.5(LARGE1):c.919C>T (p.Leu307=)
NM_133642.5(LARGE1):c.922C>A (p.Arg308=)
NM_133642.5(LARGE1):c.933A>G (p.Lys311=)
NM_133642.5(LARGE1):c.939G>A (p.Glu313=)
NM_133642.5(LARGE1):c.957C>A (p.Thr319=) rs778094231
NM_133642.5(LARGE1):c.963G>A (p.Glu321=)
NM_133642.5(LARGE1):c.972C>T (p.Leu324=)
NM_133642.5(LARGE1):c.978C>T (p.Gly326=) rs2065251221
NM_133642.5(LARGE1):c.984C>G (p.Leu328=)
NM_133642.5(LARGE1):c.987T>C (p.Ser329=)

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.