ClinVar Miner

List of variants reported as likely benign for Unverricht-Lundborg syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 554
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183 0.00145
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro) rs138510884 0.00108
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_005670.4(EPM2A):c.171G>T (p.Pro57=) rs531330673 0.00086
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_000100.4(CSTB):c.54C>T (p.His18=) rs557717323 0.00073
NM_004287.5(GOSR2):c.369A>G (p.Ser123=) rs150381512 0.00064
NM_005506.4(SCARB2):c.424-4G>A rs368869126 0.00060
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156 0.00057
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00054
NM_005506.4(SCARB2):c.276-7C>G rs200507087 0.00042
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321 0.00039
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366 0.00037
NM_004287.5(GOSR2):c.72G>A (p.Thr24=) rs145772886 0.00036
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344 0.00029
NM_153026.3(PRICKLE1):c.915G>A (p.Thr305=) rs150052192 0.00027
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576 0.00025
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511 0.00022
NM_153026.3(PRICKLE1):c.775+20G>A rs190710237 0.00021
NM_153026.3(PRICKLE1):c.246+11A>T rs138597448 0.00017
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) rs770760366 0.00016
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772 0.00016
NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=) rs144062651 0.00016
NM_005506.4(SCARB2):c.424-5C>T rs192876326 0.00014
NM_004287.5(GOSR2):c.336+9G>A rs200210055 0.00013
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593 0.00013
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063 0.00012
NM_005670.4(EPM2A):c.102G>C (p.Pro34=) rs1014133463 0.00011
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219 0.00011
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485 0.00011
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820 0.00011
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) rs141380070 0.00010
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=) rs144878666 0.00010
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619 0.00010
NM_153026.3(PRICKLE1):c.399A>C (p.Ile133=) rs775864936 0.00010
NM_000100.4(CSTB):c.183C>T (p.Asp61=) rs772899788 0.00009
NM_005506.4(SCARB2):c.1187+18C>T rs202159028 0.00009
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204 0.00009
NM_005506.4(SCARB2):c.24G>A (p.Thr8=) rs772501510 0.00009
NM_005506.4(SCARB2):c.402A>G (p.Arg134=) rs778684185 0.00009
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713 0.00009
NM_153026.3(PRICKLE1):c.189C>T (p.Pro63=) rs750059541 0.00009
NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=) rs570186739 0.00009
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) rs143240342 0.00009
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979 0.00008
NM_000100.4(CSTB):c.45G>A (p.Glu15=) rs1057521317 0.00007
NM_004287.5(GOSR2):c.336+14G>A rs201083529 0.00007
NM_004287.5(GOSR2):c.519C>T (p.Gly173=) rs552055294 0.00007
NM_005506.4(SCARB2):c.117+19T>C rs774812479 0.00007
NM_005506.4(SCARB2):c.504T>A (p.Phe168Leu) rs780352333 0.00007
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042 0.00007
NM_005506.4(SCARB2):c.1187+12T>C rs532651260 0.00006
NM_005670.4(EPM2A):c.984G>T (p.Val328=) rs200996083 0.00006
NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=) rs376123082 0.00006
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=) rs748556304 0.00006
NM_153026.3(PRICKLE1):c.804C>T (p.Asp268=) rs371149992 0.00006
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) rs137975476 0.00005
NM_005506.4(SCARB2):c.118-12G>T rs753744775 0.00005
NM_005506.4(SCARB2):c.588T>C (p.Ser196=) rs761204416 0.00005
NM_153026.3(PRICKLE1):c.588+18C>T rs777295798 0.00005
NM_000100.4(CSTB):c.120C>T (p.Ala40=) rs368198839 0.00004
NM_000100.4(CSTB):c.147G>A (p.Ala49=) rs766654703 0.00004
NM_000100.4(CSTB):c.192C>T (p.Phe64=) rs773820884 0.00004
NM_000100.4(CSTB):c.264C>T (p.Asn88=) rs767258722 0.00004
NM_000100.4(CSTB):c.67-10T>G rs199873087 0.00004
NM_000100.4(CSTB):c.67-12C>T rs776841907 0.00004
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) rs755662176 0.00004
NM_004287.5(GOSR2):c.204-7A>G rs746177544 0.00004
NM_004287.5(GOSR2):c.405C>T (p.Asn135=) rs753166413 0.00004
NM_004287.5(GOSR2):c.477+20A>T rs778488918 0.00004
NM_005506.4(SCARB2):c.1089T>C (p.His363=) rs753197792 0.00004
NM_005506.4(SCARB2):c.1240-18A>G rs371940249 0.00004
NM_005506.4(SCARB2):c.1266G>A (p.Ala422=) rs150330299 0.00004
NM_005506.4(SCARB2):c.1273C>T (p.Leu425=) rs764452245 0.00004
NM_005506.4(SCARB2):c.1398+14dup rs745656715 0.00004
NM_005506.4(SCARB2):c.522C>T (p.Asp174=) rs375051752 0.00004
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695 0.00004
NM_005506.4(SCARB2):c.93G>A (p.Lys31=) rs558215488 0.00004
NM_005506.4(SCARB2):c.9A>G (p.Arg3=) rs148558907 0.00004
NM_005670.4(EPM2A):c.348C>T (p.Asn116=) rs760860945 0.00004
NM_005670.4(EPM2A):c.476+7A>G rs756197281 0.00004
NM_005670.4(EPM2A):c.918C>T (p.Asp306=) rs375436219 0.00004
NM_153026.3(PRICKLE1):c.1059G>A (p.Ser353=) rs769884613 0.00004
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717 0.00004
NM_153026.3(PRICKLE1):c.2487T>C (p.Ile829=) rs376858650 0.00004
NM_153026.3(PRICKLE1):c.249A>G (p.Val83=) rs763029790 0.00004
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383 0.00004
NM_000100.4(CSTB):c.96C>T (p.Asn32=) rs1436155713 0.00003
NM_000100.4(CSTB):c.9C>T (p.Cys3=) rs555930471 0.00003
NM_004287.5(GOSR2):c.105C>T (p.Asn35=) rs780832143 0.00003
NM_004287.5(GOSR2):c.447T>C (p.Asp149=) rs750298260 0.00003
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=) rs564647544 0.00003
NM_005506.4(SCARB2):c.1263G>A (p.Thr421=) rs137992547 0.00003
NM_005506.4(SCARB2):c.1332G>A (p.Ala444=) rs768343387 0.00003
NM_005506.4(SCARB2):c.468C>T (p.Ile156=) rs771468161 0.00003
NM_005506.4(SCARB2):c.582T>C (p.Asp194=) rs772085575 0.00003
NM_005506.4(SCARB2):c.824+18A>G rs755013803 0.00003
NM_005670.4(EPM2A):c.156G>A (p.Leu52=) rs1196934711 0.00003
NM_005670.4(EPM2A):c.441T>C (p.Phe147=) rs965931486 0.00003
NM_005670.4(EPM2A):c.762G>A (p.Ala254=) rs199586710 0.00003
NM_005670.4(EPM2A):c.801C>T (p.Asn267=) rs181746165 0.00003
NM_005670.4(EPM2A):c.807G>A (p.Gly269=) rs755516128 0.00003
NM_005670.4(EPM2A):c.936G>A (p.Arg312=) rs773315475 0.00003
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=) rs756787066 0.00003
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=) rs148989635 0.00003
NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=) rs755994241 0.00003
NM_000100.4(CSTB):c.168+13C>T rs910966552 0.00002
NM_000100.4(CSTB):c.180C>T (p.Gly60=) rs771027631 0.00002
NM_004287.5(GOSR2):c.231C>T (p.Val77=) rs774359254 0.00002
NM_004287.5(GOSR2):c.29+9C>T rs951923133 0.00002
NM_004287.5(GOSR2):c.30-14T>C rs756098096 0.00002
NM_004287.5(GOSR2):c.336+13C>T rs562959681 0.00002
NM_004287.5(GOSR2):c.546C>T (p.Ile182=) rs1023140976 0.00002
NM_004287.5(GOSR2):c.576T>C (p.Phe192=) rs1433213435 0.00002
NM_004287.5(GOSR2):c.636A>G (p.Thr212=) rs990159762 0.00002
NM_005506.4(SCARB2):c.275+14A>G rs759250571 0.00002
NM_005506.4(SCARB2):c.291A>G (p.Lys97=) rs377635556 0.00002
NM_005506.4(SCARB2):c.825-8C>T rs201397845 0.00002
NM_005506.4(SCARB2):c.904T>C (p.Leu302=) rs377511764 0.00002
NM_005506.4(SCARB2):c.96T>C (p.Ala32=) rs752537434 0.00002
NM_005670.4(EPM2A):c.154C>T (p.Leu52=) rs1266603162 0.00002
NM_005670.4(EPM2A):c.249G>A (p.Thr83=) rs1468442057 0.00002
NM_005670.4(EPM2A):c.261G>A (p.Lys87=) rs755681637 0.00002
NM_005670.4(EPM2A):c.302-12T>C rs771456156 0.00002
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649 0.00002
NM_005670.4(EPM2A):c.477-13A>G rs778452911 0.00002
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170 0.00002
NM_005670.4(EPM2A):c.69G>T (p.Val23=) rs951254850 0.00002
NM_005670.4(EPM2A):c.768G>A (p.Leu256=) rs753561820 0.00002
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387 0.00002
NM_005670.4(EPM2A):c.924G>A (p.Glu308=) rs1439211009 0.00002
NM_153026.3(PRICKLE1):c.1248G>A (p.Thr416=) rs142502371 0.00002
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=) rs772484365 0.00002
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
NM_153026.3(PRICKLE1):c.447G>A (p.Val149=) rs561240990 0.00002
NM_153026.3(PRICKLE1):c.819C>T (p.His273=) rs763656364 0.00002
NM_153026.3(PRICKLE1):c.825G>A (p.Thr275=) rs368347802 0.00002
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=) rs537302175 0.00002
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=) rs764986581 0.00002
NM_000100.4(CSTB):c.135C>T (p.Ser45=) rs375008755 0.00001
NM_000100.4(CSTB):c.169-10C>G rs1487271257 0.00001
NM_000100.4(CSTB):c.174C>T (p.His58=) rs763095750 0.00001
NM_000100.4(CSTB):c.177C>T (p.Val59=) rs765477010 0.00001
NM_000100.4(CSTB):c.201G>A (p.Leu67=) rs1249703879 0.00001
NM_000100.4(CSTB):c.213A>G (p.Gln71=) rs758639236 0.00001
NM_000100.4(CSTB):c.243C>T (p.Thr81=) rs2083999070 0.00001
NM_000100.4(CSTB):c.27G>C (p.Thr9=) rs945357152 0.00001
NM_004287.5(GOSR2):c.177C>T (p.Pro59=) rs1467890727 0.00001
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg) rs749270151 0.00001
NM_004287.5(GOSR2):c.186A>G (p.Lys62=) rs755897636 0.00001
NM_004287.5(GOSR2):c.237C>T (p.His79=) rs1186777949 0.00001
NM_004287.5(GOSR2):c.249G>A (p.Ala83=) rs1057520593 0.00001
NM_004287.5(GOSR2):c.29+15G>T rs374396285 0.00001
NM_004287.5(GOSR2):c.30-15C>T rs750704163 0.00001
NM_004287.5(GOSR2):c.375G>A (p.Gln125=) rs768238866 0.00001
NM_004287.5(GOSR2):c.39C>T (p.His13=) rs747877774 0.00001
NM_004287.5(GOSR2):c.478-4C>G rs777442803 0.00001
NM_004287.5(GOSR2):c.94+12A>G rs369271685 0.00001
NM_004287.5(GOSR2):c.94+15G>A rs777596710 0.00001
NM_004287.5(GOSR2):c.95-7T>C rs752611190 0.00001
NM_005506.4(SCARB2):c.1113+19C>G rs1362440207 0.00001
NM_005506.4(SCARB2):c.114G>A (p.Glu38=) rs534686738 0.00001
NM_005506.4(SCARB2):c.117+10G>A rs760111311 0.00001
NM_005506.4(SCARB2):c.117+13G>A rs1391392584 0.00001
NM_005506.4(SCARB2):c.117+14G>A rs772998739 0.00001
NM_005506.4(SCARB2):c.1188-5T>C rs775387526 0.00001
NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met) rs759493134 0.00001
NM_005506.4(SCARB2):c.1240-9C>T rs369557905 0.00001
NM_005506.4(SCARB2):c.1399-8T>C rs1731903272 0.00001
NM_005506.4(SCARB2):c.1425C>T (p.Leu475=) rs780985651 0.00001
NM_005506.4(SCARB2):c.147A>C (p.Ala49=) rs764449103 0.00001
NM_005506.4(SCARB2):c.172C>T (p.Leu58=) rs1051789209 0.00001
NM_005506.4(SCARB2):c.18C>T (p.Phe6=) rs1733112720 0.00001
NM_005506.4(SCARB2):c.264A>G (p.Pro88=) rs765664728 0.00001
NM_005506.4(SCARB2):c.276-17C>T rs1732375088 0.00001
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226 0.00001
NM_005506.4(SCARB2):c.400A>C (p.Arg134=) rs747696444 0.00001
NM_005506.4(SCARB2):c.423+7A>C rs1380805649 0.00001
NM_005506.4(SCARB2):c.579C>T (p.Pro193=) rs148029250 0.00001
NM_005506.4(SCARB2):c.613-14T>G rs1484418425 0.00001
NM_005506.4(SCARB2):c.690A>G (p.Glu230=) rs957776724 0.00001
NM_005506.4(SCARB2):c.704+17A>G rs762520392 0.00001
NM_005506.4(SCARB2):c.705-20C>G rs747460425 0.00001
NM_005506.4(SCARB2):c.921C>T (p.Asp307=) rs1732196836 0.00001
NM_005670.4(EPM2A):c.120G>A (p.Leu40=) rs1264709179 0.00001
NM_005670.4(EPM2A):c.18G>A (p.Gly6=) rs1432262857 0.00001
NM_005670.4(EPM2A):c.210G>A (p.Glu70=) rs878854780 0.00001
NM_005670.4(EPM2A):c.237C>T (p.Gly79=) rs755339527 0.00001
NM_005670.4(EPM2A):c.252C>T (p.Phe84=) rs1362231306 0.00001
NM_005670.4(EPM2A):c.279G>A (p.Pro93=) rs370423440 0.00001
NM_005670.4(EPM2A):c.301+16G>A rs1286855280 0.00001
NM_005670.4(EPM2A):c.36C>T (p.Ala12=) rs1287653139 0.00001
NM_005670.4(EPM2A):c.477-14T>C rs914299630 0.00001
NM_005670.4(EPM2A):c.477-15A>G rs542654431 0.00001
NM_005670.4(EPM2A):c.666G>A (p.Arg222=) rs762189100 0.00001
NM_005670.4(EPM2A):c.714C>T (p.Thr238=) rs762653955 0.00001
NM_005670.4(EPM2A):c.719-5C>T rs768538455 0.00001
NM_005670.4(EPM2A):c.726A>G (p.Val242=) rs1485448690 0.00001
NM_005670.4(EPM2A):c.744G>A (p.Ala248=) rs538717552 0.00001
NM_005670.4(EPM2A):c.774G>A (p.Lys258=) rs1014840416 0.00001
NM_005670.4(EPM2A):c.813C>T (p.Gly271=) rs1162902926 0.00001
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) rs763812238 0.00001
NM_005670.4(EPM2A):c.834C>T (p.Cys278=) rs759427349 0.00001
NM_005670.4(EPM2A):c.927C>G (p.Ala309=) rs1181128980 0.00001
NM_153026.3(PRICKLE1):c.1107C>T (p.Asp369=) rs1285254189 0.00001
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526 0.00001
NM_153026.3(PRICKLE1):c.1341C>T (p.Asn447=) rs759563559 0.00001
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=) rs760731193 0.00001
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=) rs774825872 0.00001
NM_153026.3(PRICKLE1):c.1639+15G>T rs778854960 0.00001
NM_153026.3(PRICKLE1):c.1640-7C>T rs1555229472 0.00001
NM_153026.3(PRICKLE1):c.1770G>A (p.Arg590=) rs1212454052 0.00001
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609 0.00001
NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=) rs766992928 0.00001
NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=) rs1405666356 0.00001
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067 0.00001
NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=) rs1937730741 0.00001
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=) rs1555230725 0.00001
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=) rs1162360044 0.00001
NM_153026.3(PRICKLE1):c.384+17C>G rs752636804 0.00001
NM_153026.3(PRICKLE1):c.385-20T>G rs898970641 0.00001
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=) rs746728526 0.00001
NM_153026.3(PRICKLE1):c.669G>A (p.Thr223=) rs201394996 0.00001
NM_153026.3(PRICKLE1):c.702C>T (p.Asp234=) rs1054457480 0.00001
NM_153026.3(PRICKLE1):c.720T>C (p.Cys240=) rs374695088 0.00001
NM_153026.3(PRICKLE1):c.933C>T (p.Asp311=) rs1291662022 0.00001
NM_153026.3(PRICKLE1):c.939T>C (p.His313=) rs1395833915 0.00001
NM_000100.4(CSTB):c.111G>A (p.Val37=)
NM_000100.4(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_000100.4(CSTB):c.144C>T (p.Val48=)
NM_000100.4(CSTB):c.15G>A (p.Ala5=)
NM_000100.4(CSTB):c.168+19G>T
NM_000100.4(CSTB):c.168+7T>C
NM_000100.4(CSTB):c.168+8G>A rs556221258
NM_000100.4(CSTB):c.169-13G>A
NM_000100.4(CSTB):c.207G>T (p.Val69=)
NM_000100.4(CSTB):c.21C>A (p.Ser7=) rs748254497
NM_000100.4(CSTB):c.246A>G (p.Leu82=) rs2123385440
NM_000100.4(CSTB):c.273G>A (p.Lys91=) rs540215875
NM_000100.4(CSTB):c.294C>T (p.Phe98=) rs2123385381
NM_000100.4(CSTB):c.33G>A (p.Pro11=) rs2123387882
NM_000100.4(CSTB):c.39C>G (p.Thr13=) rs1419893626
NM_000100.4(CSTB):c.42C>G (p.Ala14=) rs2123387857
NM_000100.4(CSTB):c.66+10C>A
NM_000100.4(CSTB):c.66+11C>T
NM_000100.4(CSTB):c.66+14G>A
NM_000100.4(CSTB):c.66+15G>C
NM_000100.4(CSTB):c.66+20G>C rs1197240747
NM_000100.4(CSTB):c.67-4C>G rs2084002305
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
NM_004287.5(GOSR2):c.203+17G>T
NM_004287.5(GOSR2):c.203+8C>G
NM_004287.5(GOSR2):c.204-17C>G
NM_004287.5(GOSR2):c.204-8A>C
NM_004287.5(GOSR2):c.204-9C>T
NM_004287.5(GOSR2):c.219A>G (p.Leu73=)
NM_004287.5(GOSR2):c.29+17G>A
NM_004287.5(GOSR2):c.30-10C>T rs2146849887
NM_004287.5(GOSR2):c.30-10_30-7del
NM_004287.5(GOSR2):c.30-12T>C
NM_004287.5(GOSR2):c.30-20C>T
NM_004287.5(GOSR2):c.30-4A>G
NM_004287.5(GOSR2):c.30-7T>A rs2146850100
NM_004287.5(GOSR2):c.30-8T>A rs925439682
NM_004287.5(GOSR2):c.300G>A (p.Gln100=)
NM_004287.5(GOSR2):c.336+17G>T rs2146914624
NM_004287.5(GOSR2):c.336+20A>C
NM_004287.5(GOSR2):c.336+7C>A
NM_004287.5(GOSR2):c.337-13_337-12del
NM_004287.5(GOSR2):c.337-6dup rs2146971287
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.5(GOSR2):c.381C>T (p.Asn127=) rs761272920
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
NM_004287.5(GOSR2):c.435C>T (p.His145=) rs1599020227
NM_004287.5(GOSR2):c.478-14C>T rs1203026971
NM_004287.5(GOSR2):c.478-6C>T
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
NM_004287.5(GOSR2):c.525C>T (p.Ser175=) rs2147050274
NM_004287.5(GOSR2):c.528C>T (p.Asn176=) rs2088817717
NM_004287.5(GOSR2):c.609C>T (p.Val203=)
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
NM_004287.5(GOSR2):c.631C>T (p.Leu211=) rs2147052221
NM_004287.5(GOSR2):c.6T>C (p.Asp2=) rs757594881
NM_004287.5(GOSR2):c.94+12A>T
NM_004287.5(GOSR2):c.94+16_94+17del rs780992578
NM_004287.5(GOSR2):c.95-6G>T rs1345182096
NM_004287.5(GOSR2):c.95-7T>G rs752611190
NM_004287.5(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_004287.5(GOSR2):c.9C>G (p.Pro3=) rs750589437
NM_005506.4(SCARB2):c.1005C>T (p.Ile335=)
NM_005506.4(SCARB2):c.1014T>G (p.Ser338=) rs1732095676
NM_005506.4(SCARB2):c.1026T>C (p.Phe342=)
NM_005506.4(SCARB2):c.1056C>A (p.Ala352=)
NM_005506.4(SCARB2):c.1086C>T (p.Asp362=) rs1238674003
NM_005506.4(SCARB2):c.1107T>A (p.Ile369=) rs2109937710
NM_005506.4(SCARB2):c.1113+16C>T
NM_005506.4(SCARB2):c.1114-15T>C
NM_005506.4(SCARB2):c.1114-18C>T
NM_005506.4(SCARB2):c.1114-19T>G
NM_005506.4(SCARB2):c.1119T>G (p.Thr373=)
NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)
NM_005506.4(SCARB2):c.1164T>C (p.Tyr388=) rs777550966
NM_005506.4(SCARB2):c.1179T>C (p.Asp393=) rs2109936359
NM_005506.4(SCARB2):c.118-10T>G rs1188258340
NM_005506.4(SCARB2):c.118-7T>C rs190362739
NM_005506.4(SCARB2):c.1182C>T (p.Asp394=)
NM_005506.4(SCARB2):c.1187+10G>C
NM_005506.4(SCARB2):c.1187+13T>C
NM_005506.4(SCARB2):c.1187+20A>G
NM_005506.4(SCARB2):c.1188-11del rs796052945
NM_005506.4(SCARB2):c.1188-15C>T rs1480025542
NM_005506.4(SCARB2):c.1188-19T>G
NM_005506.4(SCARB2):c.1224G>A (p.Val408=) rs1803391
NM_005506.4(SCARB2):c.1233C>G (p.Leu411=)
NM_005506.4(SCARB2):c.1239+12G>A
NM_005506.4(SCARB2):c.1239+14_1239+17dup
NM_005506.4(SCARB2):c.1239+15G>A
NM_005506.4(SCARB2):c.1240-15T>G rs2109931990
NM_005506.4(SCARB2):c.1240-4C>T
NM_005506.4(SCARB2):c.1240-6C>G
NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)
NM_005506.4(SCARB2):c.1245T>G (p.Val415=) rs1262722686
NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)
NM_005506.4(SCARB2):c.127T>C (p.Leu43=)
NM_005506.4(SCARB2):c.12C>T (p.Cys4=)
NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)
NM_005506.4(SCARB2):c.1317C>G (p.Pro439=) rs1731937017
NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)
NM_005506.4(SCARB2):c.1386A>T (p.Gly462=) rs1315496558
NM_005506.4(SCARB2):c.1398+10_1398+22del rs778683141
NM_005506.4(SCARB2):c.1398+8C>A rs755919906
NM_005506.4(SCARB2):c.1398+8C>T rs755919906
NM_005506.4(SCARB2):c.1399-13T>C
NM_005506.4(SCARB2):c.1399-15T>A
NM_005506.4(SCARB2):c.1399-16C>G
NM_005506.4(SCARB2):c.141T>C (p.Thr47=) rs2109960926
NM_005506.4(SCARB2):c.147A>G (p.Ala49=) rs764449103
NM_005506.4(SCARB2):c.201C>T (p.Phe67=) rs749098073
NM_005506.4(SCARB2):c.204T>C (p.Asn68=)
NM_005506.4(SCARB2):c.21C>T (p.Tyr7=) rs1259404552
NM_005506.4(SCARB2):c.228C>G (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.234G>C (p.Gly78=)
NM_005506.4(SCARB2):c.249G>A (p.Val83=)
NM_005506.4(SCARB2):c.275+12C>A
NM_005506.4(SCARB2):c.276-10T>G
NM_005506.4(SCARB2):c.276-7_276-5del
NM_005506.4(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.4(SCARB2):c.315T>C (p.Asn105=) rs2109948728
NM_005506.4(SCARB2):c.345G>A (p.Lys115=)
NM_005506.4(SCARB2):c.372T>G (p.Ser124=) rs2109948665
NM_005506.4(SCARB2):c.390T>C (p.Ile130=)
NM_005506.4(SCARB2):c.39C>A (p.Ser13=) rs2109974322
NM_005506.4(SCARB2):c.405A>G (p.Thr135=)
NM_005506.4(SCARB2):c.424-18T>G
NM_005506.4(SCARB2):c.444G>A (p.Gln148=)
NM_005506.4(SCARB2):c.459G>A (p.Arg153=) rs2109947357
NM_005506.4(SCARB2):c.495G>A (p.Gln165=) rs748957598
NM_005506.4(SCARB2):c.526T>C (p.Leu176=) rs2109947255
NM_005506.4(SCARB2):c.549A>G (p.Glu183=) rs2109947229
NM_005506.4(SCARB2):c.57C>T (p.Thr19=)
NM_005506.4(SCARB2):c.585C>A (p.Ile195=)
NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)
NM_005506.4(SCARB2):c.606C>T (p.Phe202=) rs963757755
NM_005506.4(SCARB2):c.612+15C>G rs2109947094
NM_005506.4(SCARB2):c.612+8G>A
NM_005506.4(SCARB2):c.612+9A>G rs1255966631
NM_005506.4(SCARB2):c.613-16A>C
NM_005506.4(SCARB2):c.613-7T>C
NM_005506.4(SCARB2):c.678A>G (p.Thr226=) rs987942921
NM_005506.4(SCARB2):c.684T>C (p.Ile228=) rs2109944274
NM_005506.4(SCARB2):c.705-16T>G
NM_005506.4(SCARB2):c.705-19T>C
NM_005506.4(SCARB2):c.72G>T (p.Leu24=) rs2109974267
NM_005506.4(SCARB2):c.78C>A (p.Ala26=)
NM_005506.4(SCARB2):c.78C>G (p.Ala26=) rs756157659
NM_005506.4(SCARB2):c.810A>T (p.Pro270=)
NM_005506.4(SCARB2):c.81G>C (p.Arg27=) rs1481115543
NM_005506.4(SCARB2):c.825-13T>C rs2109942083
NM_005506.4(SCARB2):c.825-17T>C rs2109942090
NM_005506.4(SCARB2):c.84C>T (p.Val28=) rs781459404
NM_005506.4(SCARB2):c.858T>C (p.Ser286=)
NM_005506.4(SCARB2):c.879T>C (p.Phe293=) rs2109941982
NM_005506.4(SCARB2):c.927C>T (p.Ala309=) rs775395230
NM_005506.4(SCARB2):c.994+19G>T rs2109941762
NM_005506.4(SCARB2):c.9A>T (p.Arg3=) rs148558907
NM_005670.4(EPM2A):c.102G>A (p.Pro34=) rs1014133463
NM_005670.4(EPM2A):c.105C>G (p.Arg35=) rs1583156996
NM_005670.4(EPM2A):c.108T>G (p.Gly36=) rs1583156988
NM_005670.4(EPM2A):c.111C>T (p.Ala37=) rs1425061464
NM_005670.4(EPM2A):c.117C>T (p.Arg39=)
NM_005670.4(EPM2A):c.118C>T (p.Leu40=) rs1583156932
NM_005670.4(EPM2A):c.126G>T (p.Pro42=)
NM_005670.4(EPM2A):c.159C>A (p.Ala53=)
NM_005670.4(EPM2A):c.159C>T (p.Ala53=)
NM_005670.4(EPM2A):c.159_160delinsGT (p.Ala53_Leu54=) rs2128649621
NM_005670.4(EPM2A):c.162G>A (p.Leu54=) rs1223558074
NM_005670.4(EPM2A):c.168G>A (p.Glu56=)
NM_005670.4(EPM2A):c.171G>A (p.Pro57=) rs531330673
NM_005670.4(EPM2A):c.171G>C (p.Pro57=)
NM_005670.4(EPM2A):c.177G>A (p.Leu59=)
NM_005670.4(EPM2A):c.201G>A (p.Ala67=) rs1583156346
NM_005670.4(EPM2A):c.201G>T (p.Ala67=)
NM_005670.4(EPM2A):c.204C>A (p.Ala68=) rs1200399183
NM_005670.4(EPM2A):c.234G>A (p.Pro78=) rs2128649479
NM_005670.4(EPM2A):c.243G>C (p.Val81=)
NM_005670.4(EPM2A):c.246C>T (p.Asp82=) rs1776792686
NM_005670.4(EPM2A):c.258C>T (p.Tyr86=)
NM_005670.4(EPM2A):c.267G>A (p.Leu89=)
NM_005670.4(EPM2A):c.270G>A (p.Lys90=)
NM_005670.4(EPM2A):c.276G>A (p.Glu92=) rs766208204
NM_005670.4(EPM2A):c.291C>T (p.Leu97=)
NM_005670.4(EPM2A):c.301+11C>G rs2128649268
NM_005670.4(EPM2A):c.301+14A>G
NM_005670.4(EPM2A):c.301+16del rs2128649260
NM_005670.4(EPM2A):c.301+20G>A
NM_005670.4(EPM2A):c.302-17A>G rs1286332017
NM_005670.4(EPM2A):c.302-20A>T rs779211684
NM_005670.4(EPM2A):c.302-4C>T rs1780908908
NM_005670.4(EPM2A):c.302-7G>A rs1780909090
NM_005670.4(EPM2A):c.30A>G (p.Pro10=)
NM_005670.4(EPM2A):c.333T>C (p.Thr111=) rs1780905564
NM_005670.4(EPM2A):c.360T>C (p.Gly120=) rs2128614372
NM_005670.4(EPM2A):c.39G>T (p.Val13=)
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
NM_005670.4(EPM2A):c.42C>G (p.Ala14=) rs2128650003
NM_005670.4(EPM2A):c.45C>A (p.Gly15=) rs2128649993
NM_005670.4(EPM2A):c.476+19T>G
NM_005670.4(EPM2A):c.477-19C>T
NM_005670.4(EPM2A):c.48C>A (p.Ala16=) rs1776820090
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
NM_005670.4(EPM2A):c.525T>C (p.His175=) rs2128562729
NM_005670.4(EPM2A):c.546T>C (p.His182=) rs1776583674
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
NM_005670.4(EPM2A):c.564T>G (p.Ala188=) rs1342189516
NM_005670.4(EPM2A):c.58C>T (p.Leu20=) rs2128649954
NM_005670.4(EPM2A):c.603T>C (p.Asn201=) rs748995485
NM_005670.4(EPM2A):c.61C>T (p.Leu21=) rs2128649940
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
NM_005670.4(EPM2A):c.69G>A (p.Val23=)
NM_005670.4(EPM2A):c.714C>G (p.Thr238=) rs762653955
NM_005670.4(EPM2A):c.719-15C>T
NM_005670.4(EPM2A):c.759T>C (p.His253=) rs1775923559
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
NM_005670.4(EPM2A):c.81C>G (p.Pro27=)
NM_005670.4(EPM2A):c.81C>T (p.Pro27=)
NM_005670.4(EPM2A):c.876G>T (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.894C>T (p.Ala298=) rs1775904922
NM_005670.4(EPM2A):c.903G>A (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_005670.4(EPM2A):c.9C>T (p.Phe3=) rs2128650111
NM_153026.3(PRICKLE1):c.1029A>C (p.Ala343=)
NM_153026.3(PRICKLE1):c.1035G>A (p.Gln345=)
NM_153026.3(PRICKLE1):c.1050C>T (p.Leu350=)
NM_153026.3(PRICKLE1):c.108C>G (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.1092A>G (p.Ser364=) rs2140101756
NM_153026.3(PRICKLE1):c.1095C>A (p.Gly365=)
NM_153026.3(PRICKLE1):c.1230T>C (p.Asp410=) rs2140101257
NM_153026.3(PRICKLE1):c.1242T>C (p.Tyr414=) rs2140101201
NM_153026.3(PRICKLE1):c.1260C>T (p.Leu420=)
NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)
NM_153026.3(PRICKLE1):c.1311T>C (p.Ile437=) rs1938016409
NM_153026.3(PRICKLE1):c.132+18C>T
NM_153026.3(PRICKLE1):c.132+20A>G
NM_153026.3(PRICKLE1):c.132+20del
NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=)
NM_153026.3(PRICKLE1):c.133-5del rs1009731020
NM_153026.3(PRICKLE1):c.133-7_133-5del rs1009731020
NM_153026.3(PRICKLE1):c.133-9C>G
NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=)
NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=)
NM_153026.3(PRICKLE1):c.1440G>C (p.Leu480=) rs367822804
NM_153026.3(PRICKLE1):c.1470C>A (p.Gly490=) rs1213762995
NM_153026.3(PRICKLE1):c.1533T>C (p.His511=) rs1937999651
NM_153026.3(PRICKLE1):c.1557T>C (p.Asp519=)
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=) rs758126980
NM_153026.3(PRICKLE1):c.156A>G (p.Leu52=)
NM_153026.3(PRICKLE1):c.1596T>C (p.Ser532=) rs1937997691
NM_153026.3(PRICKLE1):c.1600C>A (p.Arg534=) rs936545109
NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=)
NM_153026.3(PRICKLE1):c.1623A>T (p.Ala541=) rs776141626
NM_153026.3(PRICKLE1):c.1629C>A (p.Ser543=) rs748556304
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1639+8_1639+20del rs1488350369
NM_153026.3(PRICKLE1):c.1640-12C>T
NM_153026.3(PRICKLE1):c.1640-20T>A rs2140088702
NM_153026.3(PRICKLE1):c.1640-9C>G
NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=)
NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=)
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=)
NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=)
NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=)
NM_153026.3(PRICKLE1):c.1851A>T (p.Pro617=) rs2140087611
NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=)
NM_153026.3(PRICKLE1):c.1875A>G (p.Gln625=)
NM_153026.3(PRICKLE1):c.1879A>C (p.Arg627=)
NM_153026.3(PRICKLE1):c.1884C>G (p.Pro628=)
NM_153026.3(PRICKLE1):c.1908T>C (p.Asp636=) rs2140087363
NM_153026.3(PRICKLE1):c.1944G>A (p.Arg648=) rs2140087181
NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=) rs2140086977
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=) rs1555229340
NM_153026.3(PRICKLE1):c.2029A>C (p.Arg677=) rs2140086570
NM_153026.3(PRICKLE1):c.202C>A (p.Arg68=) rs1305368228
NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)
NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=) rs955109457
NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)
NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=) rs1593099876
NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=) rs2140085472
NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=)
NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=) rs538043977
NM_153026.3(PRICKLE1):c.2388T>C (p.Asp796=) rs778528977
NM_153026.3(PRICKLE1):c.2403A>T (p.Pro801=) rs1434346670
NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=)
NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=)
NM_153026.3(PRICKLE1):c.246+20G>T
NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=) rs1593099130
NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=)
NM_153026.3(PRICKLE1):c.372T>C (p.Ala124=) rs2140116274
NM_153026.3(PRICKLE1):c.384+11C>T
NM_153026.3(PRICKLE1):c.385-7T>C rs2140114516
NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=)
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=) rs1060504780
NM_153026.3(PRICKLE1):c.489G>A (p.Glu163=) rs2140113843
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=)
NM_153026.3(PRICKLE1):c.522T>C (p.Asp174=) rs2140113680
NM_153026.3(PRICKLE1):c.588+10del rs766626651
NM_153026.3(PRICKLE1):c.588+11G>C rs1566084330
NM_153026.3(PRICKLE1):c.588+17C>T
NM_153026.3(PRICKLE1):c.588+8A>G rs1413160382
NM_153026.3(PRICKLE1):c.589-9T>G rs2140106433
NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=)
NM_153026.3(PRICKLE1):c.775+9_775+18del rs769446547
NM_153026.3(PRICKLE1):c.776-14C>T rs527292011
NM_153026.3(PRICKLE1):c.864G>A (p.Leu288=) rs1481944717
NM_153026.3(PRICKLE1):c.88T>C (p.Leu30=) rs2140124993
NM_153026.3(PRICKLE1):c.936C>T (p.Val312=) rs2140102485
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.991C>A (p.Arg331=)

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