ClinVar Miner

List of variants reported as likely benign for acrocallosal syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 496
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_198525.3(KIF7):c.*37G>A rs147387691 0.00238
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile) rs143877028 0.00144
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met) rs141463861 0.00108
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_198525.3(KIF7):c.2173G>A (p.Gly725Ser) rs150227461 0.00069
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00062
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630 0.00058
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=) rs138764398 0.00056
NM_198525.3(KIF7):c.1698C>T (p.Ala566=) rs147663017 0.00045
NM_198525.3(KIF7):c.375C>A (p.Ala125=) rs370413810 0.00045
NM_198525.3(KIF7):c.465C>T (p.Asp155=) rs765350587 0.00036
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311 0.00035
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=) rs142488318 0.00034
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_198525.3(KIF7):c.2049G>A (p.Gly683=) rs141856439 0.00031
NM_198525.3(KIF7):c.3828C>T (p.Thr1276=) rs149585159 0.00029
NM_198525.3(KIF7):c.3906G>A (p.Leu1302=) rs142246932 0.00029
NM_198525.3(KIF7):c.3318+16A>G rs372323903 0.00026
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622 0.00024
NM_198525.3(KIF7):c.96C>T (p.His32=) rs368482949 0.00022
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_198525.3(KIF7):c.3621G>A (p.Leu1207=) rs138986036 0.00020
NM_198525.3(KIF7):c.2586C>T (p.Arg862=) rs141097070 0.00019
NM_198525.3(KIF7):c.3327G>A (p.Thr1109=) rs575365743 0.00019
NM_198525.3(KIF7):c.402C>T (p.Asn134=) rs569704065 0.00017
NM_198525.3(KIF7):c.3112-19C>T rs372151159 0.00016
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261 0.00015
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_198525.3(KIF7):c.1922+13C>T rs376321790 0.00013
NM_198525.3(KIF7):c.2719-12A>C rs979287158 0.00012
NM_198525.3(KIF7):c.3664+15C>T rs199716624 0.00012
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269 0.00011
NM_198525.3(KIF7):c.1740G>A (p.Pro580=) rs200473560 0.00011
NM_198525.3(KIF7):c.2191+7C>T rs371970440 0.00011
NM_198525.3(KIF7):c.3525C>T (p.Leu1175=) rs145915541 0.00011
NM_198525.3(KIF7):c.3690G>A (p.Ser1230=) rs376563309 0.00011
NM_198525.3(KIF7):c.2871G>A (p.Glu957=) rs148311253 0.00010
NM_198525.3(KIF7):c.329-13G>C rs771408124 0.00010
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277 0.00010
NM_198525.3(KIF7):c.3201G>A (p.Gln1067=) rs201342316 0.00009
NM_198525.3(KIF7):c.72A>C (p.Pro24=) rs773325406 0.00009
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=) rs375802364 0.00008
NM_198525.3(KIF7):c.3966C>T (p.Ser1322=) rs148134313 0.00008
NM_198525.3(KIF7):c.1707G>T (p.Gly569=) rs373186834 0.00007
NM_198525.3(KIF7):c.3112-17C>T rs776622132 0.00007
NM_198525.3(KIF7):c.3192A>T (p.Thr1064=) rs574281511 0.00007
NM_198525.3(KIF7):c.1155C>A (p.Ile385=) rs921215892 0.00006
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533 0.00006
NM_198525.3(KIF7):c.1560+8G>A rs373449762 0.00006
NM_198525.3(KIF7):c.222C>T (p.Cys74=) rs527453026 0.00006
NM_198525.3(KIF7):c.2286C>A (p.Gly762=) rs779180324 0.00006
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415 0.00006
NM_198525.3(KIF7):c.2593-7C>T rs548973054 0.00006
NM_198525.3(KIF7):c.288G>A (p.Thr96=) rs777317164 0.00006
NM_198525.3(KIF7):c.2913C>T (p.Ile971=) rs985336033 0.00006
NM_198525.3(KIF7):c.519C>T (p.Arg173=) rs761188101 0.00006
NM_198525.3(KIF7):c.530-5C>T rs991582441 0.00006
NM_198525.3(KIF7):c.588G>T (p.Leu196=) rs191721354 0.00006
NM_198525.3(KIF7):c.666C>T (p.Thr222=) rs779111299 0.00006
NM_198525.3(KIF7):c.924-14C>T rs573998309 0.00006
NM_198525.3(KIF7):c.1923-20C>A rs201211373 0.00005
NM_198525.3(KIF7):c.2592+9C>T rs933104100 0.00005
NM_198525.3(KIF7):c.2967C>T (p.Ser989=) rs749374011 0.00005
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=) rs148749994 0.00005
NM_198525.3(KIF7):c.849C>G (p.Gly283=) rs1394357304 0.00005
NM_198525.3(KIF7):c.1164C>T (p.Gly388=) rs975756878 0.00004
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534 0.00004
NM_198525.3(KIF7):c.2038+14G>C rs754648957 0.00004
NM_198525.3(KIF7):c.2192-10T>C rs771854977 0.00004
NM_198525.3(KIF7):c.2208C>G (p.Ala736=) rs778966699 0.00004
NM_198525.3(KIF7):c.2529C>T (p.Arg843=) rs199783943 0.00004
NM_198525.3(KIF7):c.2655G>A (p.Ala885=) rs779122875 0.00004
NM_198525.3(KIF7):c.2682C>T (p.Gly894=) rs1428071713 0.00004
NM_198525.3(KIF7):c.2958C>T (p.Ser986=) rs559548657 0.00004
NM_198525.3(KIF7):c.2988C>T (p.Ser996=) rs535807214 0.00004
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=) rs146808726 0.00004
NM_198525.3(KIF7):c.329-14C>T rs1013318465 0.00004
NM_198525.3(KIF7):c.336C>T (p.Leu112=) rs794727530 0.00004
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=) rs185689321 0.00004
NM_198525.3(KIF7):c.3664+13C>T rs780993719 0.00004
NM_198525.3(KIF7):c.50G>A (p.Arg17Gln) rs949983017 0.00004
NM_198525.3(KIF7):c.923+19C>T rs546316306 0.00004
NM_198525.3(KIF7):c.1671G>A (p.Gly557=) rs142355569 0.00003
NM_198525.3(KIF7):c.1896G>A (p.Pro632=) rs769851023 0.00003
NM_198525.3(KIF7):c.1953G>A (p.Ala651=) rs764831222 0.00003
NM_198525.3(KIF7):c.2038+12G>A rs545348969 0.00003
NM_198525.3(KIF7):c.2191+11G>A rs199753549 0.00003
NM_198525.3(KIF7):c.2192-15C>G rs983505734 0.00003
NM_198525.3(KIF7):c.2394+10G>A rs373852548 0.00003
NM_198525.3(KIF7):c.2472C>T (p.Leu824=) rs199513810 0.00003
NM_198525.3(KIF7):c.2538G>A (p.Thr846=) rs746816055 0.00003
NM_198525.3(KIF7):c.2688C>T (p.Asn896=) rs779076505 0.00003
NM_198525.3(KIF7):c.2760G>A (p.Glu920=) rs777277054 0.00003
NM_198525.3(KIF7):c.2895+15G>A rs779269518 0.00003
NM_198525.3(KIF7):c.3518-17C>T rs200157929 0.00003
NM_198525.3(KIF7):c.3518-4C>G rs1226183855 0.00003
NM_198525.3(KIF7):c.3753G>A (p.Leu1251=) rs140121479 0.00003
NM_198525.3(KIF7):c.3840G>A (p.Ser1280=) rs530450447 0.00003
NM_198525.3(KIF7):c.3903C>G (p.Pro1301=) rs749589340 0.00003
NM_198525.3(KIF7):c.3915G>A (p.Arg1305=) rs763741856 0.00003
NM_198525.3(KIF7):c.3942G>C (p.Leu1314=) rs776674506 0.00003
NM_198525.3(KIF7):c.1083C>G (p.Ala361=) rs762513139 0.00002
NM_198525.3(KIF7):c.1618C>T (p.Leu540=) rs1401186589 0.00002
NM_198525.3(KIF7):c.1641C>G (p.Gly547=) rs762180295 0.00002
NM_198525.3(KIF7):c.165T>C (p.Phe55=) rs1011116318 0.00002
NM_198525.3(KIF7):c.1719C>T (p.Ala573=) rs549965313 0.00002
NM_198525.3(KIF7):c.1922+18C>T rs751154407 0.00002
NM_198525.3(KIF7):c.2451T>C (p.Ser817=) rs200055380 0.00002
NM_198525.3(KIF7):c.2602C>T (p.Leu868=) rs151090897 0.00002
NM_198525.3(KIF7):c.2796G>T (p.Leu932=) rs1474183051 0.00002
NM_198525.3(KIF7):c.279T>C (p.Tyr93=) rs918495590 0.00002
NM_198525.3(KIF7):c.3075C>T (p.Asp1025=) rs141683648 0.00002
NM_198525.3(KIF7):c.3112-4G>A rs1411133526 0.00002
NM_198525.3(KIF7):c.3363C>T (p.Phe1121=) rs904688190 0.00002
NM_198525.3(KIF7):c.3405G>A (p.Val1135=) rs1378035170 0.00002
NM_198525.3(KIF7):c.3517+11C>T rs775234498 0.00002
NM_198525.3(KIF7):c.3645C>T (p.Asn1215=) rs201642543 0.00002
NM_198525.3(KIF7):c.3846G>A (p.Leu1282=) rs772244933 0.00002
NM_198525.3(KIF7):c.3975G>A (p.Arg1325=) rs1192796098 0.00002
NM_198525.3(KIF7):c.636C>T (p.His212=) rs566303918 0.00002
NM_198525.3(KIF7):c.1062G>A (p.Thr354=) rs1284339153 0.00001
NM_198525.3(KIF7):c.1176A>G (p.Pro392=) rs1964060075 0.00001
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536 0.00001
NM_198525.3(KIF7):c.1263C>T (p.Ser421=) rs1397050342 0.00001
NM_198525.3(KIF7):c.138C>T (p.Arg46=) rs1446813984 0.00001
NM_198525.3(KIF7):c.1444-9G>A rs761796364 0.00001
NM_198525.3(KIF7):c.151C>T (p.Arg51Cys) rs746429585 0.00001
NM_198525.3(KIF7):c.1692T>C (p.His564=) rs1331513724 0.00001
NM_198525.3(KIF7):c.1788+11G>A rs747869900 0.00001
NM_198525.3(KIF7):c.1789-10A>C rs747897799 0.00001
NM_198525.3(KIF7):c.1789-11C>T rs771607225 0.00001
NM_198525.3(KIF7):c.1824G>A (p.Leu608=) rs201152117 0.00001
NM_198525.3(KIF7):c.1922+10A>T rs1045094847 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_198525.3(KIF7):c.2106G>A (p.Arg702=) rs1377904601 0.00001
NM_198525.3(KIF7):c.2136G>A (p.Glu712=) rs772511828 0.00001
NM_198525.3(KIF7):c.2148C>T (p.Asn716=) rs748726975 0.00001
NM_198525.3(KIF7):c.2191+8G>A rs776233268 0.00001
NM_198525.3(KIF7):c.2325G>A (p.Gln775=) rs1372575697 0.00001
NM_198525.3(KIF7):c.2334C>T (p.Gly778=) rs544281626 0.00001
NM_198525.3(KIF7):c.2394+7C>T rs370379362 0.00001
NM_198525.3(KIF7):c.2403G>A (p.Lys801=) rs777202140 0.00001
NM_198525.3(KIF7):c.2442G>A (p.Ser814=) rs773559812 0.00001
NM_198525.3(KIF7):c.2652C>T (p.Ile884=) rs750064265 0.00001
NM_198525.3(KIF7):c.2719-10T>C rs752594428 0.00001
NM_198525.3(KIF7):c.2727G>A (p.Glu909=) rs767533531 0.00001
NM_198525.3(KIF7):c.282T>A (p.Gly94=) rs776958371 0.00001
NM_198525.3(KIF7):c.2895+9C>T rs569730394 0.00001
NM_198525.3(KIF7):c.2896-9T>C rs746943281 0.00001
NM_198525.3(KIF7):c.2941C>T (p.Leu981=) rs1166900434 0.00001
NM_198525.3(KIF7):c.2974C>T (p.Leu992=) rs867666556 0.00001
NM_198525.3(KIF7):c.3072C>T (p.Ile1024=) rs1031833576 0.00001
NM_198525.3(KIF7):c.3112-10G>A rs370548253 0.00001
NM_198525.3(KIF7):c.3112-16G>A rs771009677 0.00001
NM_198525.3(KIF7):c.3129C>T (p.Phe1043=) rs1471724212 0.00001
NM_198525.3(KIF7):c.3147C>T (p.Ile1049=) rs1287671158 0.00001
NM_198525.3(KIF7):c.3204G>A (p.Arg1068=) rs762077405 0.00001
NM_198525.3(KIF7):c.3240C>T (p.Cys1080=) rs757004181 0.00001
NM_198525.3(KIF7):c.3285G>A (p.Glu1095=) rs774461779 0.00001
NM_198525.3(KIF7):c.329-12G>C rs1555425052 0.00001
NM_198525.3(KIF7):c.3318+20C>T rs747994640 0.00001
NM_198525.3(KIF7):c.333C>T (p.Ser111=) rs1452576966 0.00001
NM_198525.3(KIF7):c.3423C>G (p.Ala1141=) rs563944213 0.00001
NM_198525.3(KIF7):c.3465G>A (p.Leu1155=) rs141826578 0.00001
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=) rs886192389 0.00001
NM_198525.3(KIF7):c.3518-5T>A rs182815336 0.00001
NM_198525.3(KIF7):c.3664+10C>T rs755726739 0.00001
NM_198525.3(KIF7):c.3723G>A (p.Glu1241=) rs775895621 0.00001
NM_198525.3(KIF7):c.3774C>A (p.Ala1258=) rs769455694 0.00001
NM_198525.3(KIF7):c.3810C>T (p.His1270=) rs202197486 0.00001
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=) rs370333561 0.00001
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529 0.00001
NM_198525.3(KIF7):c.436C>T (p.Leu146=) rs1015772039 0.00001
NM_198525.3(KIF7):c.471C>T (p.Leu157=) rs973284291 0.00001
NM_198525.3(KIF7):c.510A>G (p.Glu170=) rs761029778 0.00001
NM_198525.3(KIF7):c.530-4G>A rs1239408011 0.00001
NM_198525.3(KIF7):c.530-9T>C rs1229636750 0.00001
NM_198525.3(KIF7):c.558G>A (p.Val186=) rs958819012 0.00001
NM_198525.3(KIF7):c.660C>A (p.Val220=) rs886038762 0.00001
NM_198525.3(KIF7):c.678G>A (p.Glu226=) rs1029167779 0.00001
NM_198525.3(KIF7):c.702C>G (p.Arg234=) rs1365872087 0.00001
NM_198525.3(KIF7):c.795C>T (p.Thr265=) rs1423923369 0.00001
NM_198525.3(KIF7):c.923+11C>T rs1302839346 0.00001
NM_198525.3(KIF7):c.*430dup rs113145397
NM_198525.3(KIF7):c.1008C>T (p.Thr336=)
NM_198525.3(KIF7):c.1023C>T (p.Asn341=)
NM_198525.3(KIF7):c.1140C>G (p.Ser380=)
NM_198525.3(KIF7):c.1152C>A (p.Ile384=)
NM_198525.3(KIF7):c.1161C>T (p.Arg387=) rs2142028813
NM_198525.3(KIF7):c.1191C>T (p.Ala397=)
NM_198525.3(KIF7):c.1194C>T (p.Ser398=)
NM_198525.3(KIF7):c.1200G>A (p.Ala400=)
NM_198525.3(KIF7):c.1203C>G (p.Ala401=)
NM_198525.3(KIF7):c.1203C>T (p.Ala401=)
NM_198525.3(KIF7):c.1221C>G (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1251C>T (p.Asp417=) rs1964057629
NM_198525.3(KIF7):c.1254C>T (p.Ala418=)
NM_198525.3(KIF7):c.1260C>T (p.Tyr420=) rs1055440260
NM_198525.3(KIF7):c.126A>T (p.Pro42=)
NM_198525.3(KIF7):c.1284C>G (p.Ala428=) rs1355839257
NM_198525.3(KIF7):c.1294C>T (p.Leu432=) rs1964056507
NM_198525.3(KIF7):c.1299C>A (p.Pro433=) rs921943205
NM_198525.3(KIF7):c.1299C>T (p.Pro433=)
NM_198525.3(KIF7):c.1308C>T (p.Ala436=)
NM_198525.3(KIF7):c.1338C>G (p.Ala446=)
NM_198525.3(KIF7):c.1350G>A (p.Glu450=)
NM_198525.3(KIF7):c.1360C>T (p.Leu454=) rs794727743
NM_198525.3(KIF7):c.1368C>A (p.Ser456=) rs958419453
NM_198525.3(KIF7):c.1380C>A (p.Pro460=)
NM_198525.3(KIF7):c.1380C>G (p.Pro460=)
NM_198525.3(KIF7):c.1401C>G (p.Ala467=)
NM_198525.3(KIF7):c.1407C>T (p.Val469=)
NM_198525.3(KIF7):c.1422G>A (p.Ala474=) rs781285831
NM_198525.3(KIF7):c.1443+11G>C
NM_198525.3(KIF7):c.1443+19G>A
NM_198525.3(KIF7):c.1444-20C>A
NM_198525.3(KIF7):c.1444-6C>T rs2142026695
NM_198525.3(KIF7):c.1458G>A (p.Ala486=)
NM_198525.3(KIF7):c.1458G>C (p.Ala486=)
NM_198525.3(KIF7):c.1465C>T (p.Leu489=) rs747377638
NM_198525.3(KIF7):c.1491G>A (p.Ala497=)
NM_198525.3(KIF7):c.1494G>T (p.Arg498=)
NM_198525.3(KIF7):c.1545G>A (p.Glu515=)
NM_198525.3(KIF7):c.1560+11C>T rs748805814
NM_198525.3(KIF7):c.1560+7C>T
NM_198525.3(KIF7):c.1561-11A>G
NM_198525.3(KIF7):c.1561-12C>T
NM_198525.3(KIF7):c.1561-17T>C
NM_198525.3(KIF7):c.1566C>T (p.Asp522=)
NM_198525.3(KIF7):c.1587G>A (p.Glu529=)
NM_198525.3(KIF7):c.1629A>G (p.Pro543=)
NM_198525.3(KIF7):c.1659C>G (p.Gly553=) rs1368924416
NM_198525.3(KIF7):c.1704G>A (p.Leu568=)
NM_198525.3(KIF7):c.174C>T (p.His58=)
NM_198525.3(KIF7):c.1752C>G (p.Leu584=)
NM_198525.3(KIF7):c.1758A>G (p.Gly586=)
NM_198525.3(KIF7):c.1780A>C (p.Arg594=)
NM_198525.3(KIF7):c.1789-5C>T
NM_198525.3(KIF7):c.1849A>G (p.Ser617Gly)
NM_198525.3(KIF7):c.186C>A (p.Ala62=)
NM_198525.3(KIF7):c.1878_1883dup (p.Glu630_Glu631dup) rs780304130
NM_198525.3(KIF7):c.1917G>A (p.Leu639=)
NM_198525.3(KIF7):c.1923-15G>A
NM_198525.3(KIF7):c.1926T>C (p.Asn642=)
NM_198525.3(KIF7):c.195G>T (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.1986G>A (p.Lys662=)
NM_198525.3(KIF7):c.2010G>A (p.Glu670=) rs781476519
NM_198525.3(KIF7):c.2028A>C (p.Pro676=) rs2142022153
NM_198525.3(KIF7):c.2038+7_2038+18dup
NM_198525.3(KIF7):c.2038+8G>A
NM_198525.3(KIF7):c.2039-11G>C
NM_198525.3(KIF7):c.2059C>A (p.Arg687=) rs138736028
NM_198525.3(KIF7):c.2061A>G (p.Arg687=)
NM_198525.3(KIF7):c.2079C>A (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2079C>G (p.Val693=)
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2082C>A (p.Pro694=) rs928439294
NM_198525.3(KIF7):c.2082C>T (p.Pro694=)
NM_198525.3(KIF7):c.2088C>T (p.Ala696=)
NM_198525.3(KIF7):c.2112C>T (p.Ala704=)
NM_198525.3(KIF7):c.2131C>A (p.Arg711=)
NM_198525.3(KIF7):c.2137C>T (p.Leu713=) rs762264287
NM_198525.3(KIF7):c.2191+10G>A rs1963985277
NM_198525.3(KIF7):c.2191+16C>G
NM_198525.3(KIF7):c.2191+18G>T
NM_198525.3(KIF7):c.2192-13C>G
NM_198525.3(KIF7):c.2192-19C>T
NM_198525.3(KIF7):c.2192-7C>A
NM_198525.3(KIF7):c.219C>G (p.Ala73=)
NM_198525.3(KIF7):c.2202T>A (p.Ala734=) rs1195634938
NM_198525.3(KIF7):c.2242C>T (p.Leu748=)
NM_198525.3(KIF7):c.2265G>A (p.Val755=)
NM_198525.3(KIF7):c.2268G>A (p.Arg756=)
NM_198525.3(KIF7):c.2298G>A (p.Leu766=)
NM_198525.3(KIF7):c.231C>G (p.Pro77=)
NM_198525.3(KIF7):c.231C>T (p.Pro77=)
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2352G>A (p.Gln784=)
NM_198525.3(KIF7):c.2370C>A (p.Val790=)
NM_198525.3(KIF7):c.2370C>G (p.Val790=)
NM_198525.3(KIF7):c.2376G>A (p.Ala792=)
NM_198525.3(KIF7):c.2388G>A (p.Gln796=) rs781770350
NM_198525.3(KIF7):c.2394+13G>T rs2142016789
NM_198525.3(KIF7):c.2394+14C>T
NM_198525.3(KIF7):c.2394+9C>T
NM_198525.3(KIF7):c.2421G>A (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2421G>C (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2463G>A (p.Leu821=)
NM_198525.3(KIF7):c.2463G>T (p.Leu821=)
NM_198525.3(KIF7):c.2484G>C (p.Val828=) rs774738288
NM_198525.3(KIF7):c.2494C>A (p.Arg832=) rs745638889
NM_198525.3(KIF7):c.249C>T (p.Phe83=)
NM_198525.3(KIF7):c.2508A>G (p.Gly836=)
NM_198525.3(KIF7):c.2520G>A (p.Arg840=)
NM_198525.3(KIF7):c.2526T>G (p.Leu842=)
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu) rs141514601
NM_198525.3(KIF7):c.2592+12G>A rs370749315
NM_198525.3(KIF7):c.2592+12G>T rs370749315
NM_198525.3(KIF7):c.2592+19T>G
NM_198525.3(KIF7):c.2593-10C>T
NM_198525.3(KIF7):c.2593-9C>T
NM_198525.3(KIF7):c.2625G>A (p.Lys875=) rs1963725377
NM_198525.3(KIF7):c.2631G>A (p.Leu877=) rs2142001419
NM_198525.3(KIF7):c.2643G>A (p.Thr881=)
NM_198525.3(KIF7):c.2646A>G (p.Glu882=)
NM_198525.3(KIF7):c.2649G>A (p.Glu883=)
NM_198525.3(KIF7):c.2649G>T (p.Glu883Asp) rs765751072
NM_198525.3(KIF7):c.2673G>A (p.Arg891=)
NM_198525.3(KIF7):c.2676C>T (p.Arg892=) rs2142001297
NM_198525.3(KIF7):c.2719-11_2719-10insCCTCCCTCCCTCCCTC
NM_198525.3(KIF7):c.2719-13_2719-12insCCTCCCTCCCTCCCTG
NM_198525.3(KIF7):c.2719-13_2719-12insCTCCCTCCCTCCCTCA rs1555423473
NM_198525.3(KIF7):c.2719-13_2719-12insCTCCCTCCCTCCCTCT
NM_198525.3(KIF7):c.2719-13_2719-12insTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTACC
NM_198525.3(KIF7):c.2719-13_2719-12insTCCCTCCCTCCCTCCT
NM_198525.3(KIF7):c.2719-16_2719-15insTCCCTCCCTCCCTCTC rs760152151
NM_198525.3(KIF7):c.2719-18C>T
NM_198525.3(KIF7):c.2719-19_2719-18insTCCCTCCCTCCTTCCC rs753551789
NM_198525.3(KIF7):c.2719-28CCCT[10] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[11] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[12] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[13] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[14] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[3] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[5] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[6] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[7] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[8] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[9] rs3840030
NM_198525.3(KIF7):c.2719-5C>T
NM_198525.3(KIF7):c.2719-7T>G
NM_198525.3(KIF7):c.2719-9_2719-8insTCCCTCCCTCCC rs1445715606
NM_198525.3(KIF7):c.2736G>A (p.Lys912=)
NM_198525.3(KIF7):c.2776C>A (p.Arg926=) rs147407072
NM_198525.3(KIF7):c.2784G>A (p.Ala928=)
NM_198525.3(KIF7):c.2784G>T (p.Ala928=)
NM_198525.3(KIF7):c.2805G>A (p.Glu935=) rs1216364737
NM_198525.3(KIF7):c.2808C>G (p.Leu936=) rs1006371075
NM_198525.3(KIF7):c.2844C>T (p.Ala948=) rs1395282434
NM_198525.3(KIF7):c.2847G>A (p.Leu949=)
NM_198525.3(KIF7):c.2862G>A (p.Thr954=)
NM_198525.3(KIF7):c.2877G>A (p.Lys959=)
NM_198525.3(KIF7):c.2880C>A (p.Arg960=)
NM_198525.3(KIF7):c.2880C>G (p.Arg960=) rs761354914
NM_198525.3(KIF7):c.2895+7C>T rs549295826
NM_198525.3(KIF7):c.2895+8C>T
NM_198525.3(KIF7):c.2896-10C>G
NM_198525.3(KIF7):c.2896-4C>T rs1410746124
NM_198525.3(KIF7):c.2896-7C>T
NM_198525.3(KIF7):c.2896-8G>A
NM_198525.3(KIF7):c.2898C>T (p.Ala966=)
NM_198525.3(KIF7):c.2904C>T (p.Asn968=)
NM_198525.3(KIF7):c.303A>G (p.Thr101=) rs2142036201
NM_198525.3(KIF7):c.3064C>T (p.Leu1022=)
NM_198525.3(KIF7):c.3108C>A (p.Pro1036=)
NM_198525.3(KIF7):c.3108C>T (p.Pro1036=) rs201713717
NM_198525.3(KIF7):c.3111+11G>A
NM_198525.3(KIF7):c.3111+17T>C
NM_198525.3(KIF7):c.3111+9C>T rs147996726
NM_198525.3(KIF7):c.3112-18G>A
NM_198525.3(KIF7):c.3117G>A (p.Glu1039=)
NM_198525.3(KIF7):c.3133T>C (p.Leu1045=)
NM_198525.3(KIF7):c.3141G>A (p.Glu1047=) rs2141996092
NM_198525.3(KIF7):c.3171G>A (p.Glu1057=)
NM_198525.3(KIF7):c.3189C>T (p.Ile1063=) rs2141996021
NM_198525.3(KIF7):c.3192A>G (p.Thr1064=)
NM_198525.3(KIF7):c.3225G>T (p.Ser1075=) rs375802364
NM_198525.3(KIF7):c.3237G>A (p.Gln1079=)
NM_198525.3(KIF7):c.328+17G>A
NM_198525.3(KIF7):c.329-15G>T
NM_198525.3(KIF7):c.329-26_329-13del rs556031779
NM_198525.3(KIF7):c.3294C>G (p.Ala1098=) rs763451105
NM_198525.3(KIF7):c.330C>T (p.Ala110=)
NM_198525.3(KIF7):c.3318+14C>T
NM_198525.3(KIF7):c.3318+17T>C
NM_198525.3(KIF7):c.3319-10C>T rs941867635
NM_198525.3(KIF7):c.3319-13G>A rs371154050
NM_198525.3(KIF7):c.3319-13_3319-12del rs2141994477
NM_198525.3(KIF7):c.3319-16C>G
NM_198525.3(KIF7):c.3319-18G>A
NM_198525.3(KIF7):c.3331C>A (p.Arg1111=) rs778139192
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3345C>T (p.His1115=) rs142032413
NM_198525.3(KIF7):c.3360C>T (p.Ala1120=)
NM_198525.3(KIF7):c.3366G>C (p.Ser1122=)
NM_198525.3(KIF7):c.3402G>A (p.Leu1134=) rs1963624030
NM_198525.3(KIF7):c.3417G>A (p.Glu1139=)
NM_198525.3(KIF7):c.3426G>A (p.Leu1142=)
NM_198525.3(KIF7):c.3441G>A (p.Leu1147=)
NM_198525.3(KIF7):c.3453C>T (p.Arg1151=)
NM_198525.3(KIF7):c.3456G>A (p.Gln1152=) rs769648374
NM_198525.3(KIF7):c.3480C>T (p.His1160=)
NM_198525.3(KIF7):c.3483G>A (p.Glu1161=)
NM_198525.3(KIF7):c.3489C>T (p.Asn1163=)
NM_198525.3(KIF7):c.3517+12G>A
NM_198525.3(KIF7):c.3517+9C>A
NM_198525.3(KIF7):c.3518-13C>G rs955750866
NM_198525.3(KIF7):c.3518-16G>A rs376062532
NM_198525.3(KIF7):c.3518-16G>T
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=) rs778389919
NM_198525.3(KIF7):c.351G>A (p.Gln117=)
NM_198525.3(KIF7):c.3582G>A (p.Glu1194=) rs575165138
NM_198525.3(KIF7):c.3589C>T (p.Leu1197=) rs886038761
NM_198525.3(KIF7):c.3600C>T (p.Tyr1200=)
NM_198525.3(KIF7):c.3612C>T (p.Asn1204=) rs918639337
NM_198525.3(KIF7):c.3664+12T>C
NM_198525.3(KIF7):c.3664+14G>A
NM_198525.3(KIF7):c.3664+15C>A rs199716624
NM_198525.3(KIF7):c.3664+16G>A
NM_198525.3(KIF7):c.3664+16G>C
NM_198525.3(KIF7):c.3664+16G>T
NM_198525.3(KIF7):c.3664+9T>C
NM_198525.3(KIF7):c.3665-13C>T
NM_198525.3(KIF7):c.3665-14_3665-10dup rs761932434
NM_198525.3(KIF7):c.3665-7A>G
NM_198525.3(KIF7):c.3665-8C>T
NM_198525.3(KIF7):c.3687C>T (p.Cys1229=)
NM_198525.3(KIF7):c.3732G>A (p.Leu1244=)
NM_198525.3(KIF7):c.3732G>T (p.Leu1244=)
NM_198525.3(KIF7):c.3744T>G (p.Leu1248=)
NM_198525.3(KIF7):c.3753G>T (p.Leu1251=) rs140121479
NM_198525.3(KIF7):c.3759C>A (p.Pro1253=) rs147767277
NM_198525.3(KIF7):c.375C>G (p.Ala125=) rs370413810
NM_198525.3(KIF7):c.375C>T (p.Ala125=) rs370413810
NM_198525.3(KIF7):c.3816G>A (p.Pro1272=)
NM_198525.3(KIF7):c.3816G>T (p.Pro1272=) rs772866453
NM_198525.3(KIF7):c.3825G>A (p.Leu1275=)
NM_198525.3(KIF7):c.3870C>G (p.Pro1290=) rs761421026
NM_198525.3(KIF7):c.3870C>T (p.Pro1290=) rs761421026
NM_198525.3(KIF7):c.3877C>T (p.Leu1293=)
NM_198525.3(KIF7):c.390C>G (p.Leu130=)
NM_198525.3(KIF7):c.3912G>C (p.Gly1304=)
NM_198525.3(KIF7):c.3913C>A (p.Arg1305=)
NM_198525.3(KIF7):c.3927G>A (p.Val1309=)
NM_198525.3(KIF7):c.393C>T (p.Ile131=) rs537169269
NM_198525.3(KIF7):c.3954T>C (p.Phe1318=) rs2141991003
NM_198525.3(KIF7):c.3972C>G (p.Pro1324=) rs2141990923
NM_198525.3(KIF7):c.3978G>C (p.Arg1326=) rs754774163
NM_198525.3(KIF7):c.3999G>A (p.Pro1333=)
NM_198525.3(KIF7):c.4023C>T (p.Asn1341=)
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.426T>C (p.His142=)
NM_198525.3(KIF7):c.529+11C>G
NM_198525.3(KIF7):c.529+9C>G
NM_198525.3(KIF7):c.530-14T>G
NM_198525.3(KIF7):c.534G>T (p.Leu178=)
NM_198525.3(KIF7):c.54T>C (p.Val18=)
NM_198525.3(KIF7):c.555C>T (p.Asp185=)
NM_198525.3(KIF7):c.586C>T (p.Leu196=)
NM_198525.3(KIF7):c.603G>C (p.Ala201=)
NM_198525.3(KIF7):c.624G>C (p.Thr208=)
NM_198525.3(KIF7):c.639G>A (p.Leu213=) rs2142030946
NM_198525.3(KIF7):c.651A>C (p.Ser217=) rs1964082404
NM_198525.3(KIF7):c.657G>A (p.Thr219=)
NM_198525.3(KIF7):c.657G>T (p.Thr219=)
NM_198525.3(KIF7):c.687G>T (p.Gly229=)
NM_198525.3(KIF7):c.690C>T (p.Arg230=)
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_198525.3(KIF7):c.714C>T (p.Pro238=)
NM_198525.3(KIF7):c.726G>A (p.Gln242=)
NM_198525.3(KIF7):c.732C>G (p.Leu244=) rs549780424
NM_198525.3(KIF7):c.756C>T (p.Asp252=) rs2142030504
NM_198525.3(KIF7):c.759G>C (p.Leu253=)
NM_198525.3(KIF7):c.780C>T (p.Leu260=)
NM_198525.3(KIF7):c.795C>A (p.Thr265=)
NM_198525.3(KIF7):c.795C>G (p.Thr265=)
NM_198525.3(KIF7):c.852C>T (p.Asn284=)
NM_198525.3(KIF7):c.861C>T (p.Ser287=)
NM_198525.3(KIF7):c.867G>A (p.Leu289=)
NM_198525.3(KIF7):c.885G>C (p.Arg295=)
NM_198525.3(KIF7):c.906C>A (p.Arg302=) rs1434092015
NM_198525.3(KIF7):c.909C>T (p.Asp303=) rs1964074345
NM_198525.3(KIF7):c.90G>T (p.Leu30=)
NM_198525.3(KIF7):c.918C>T (p.Ile306=)
NM_198525.3(KIF7):c.923+17C>G
NM_198525.3(KIF7):c.923+7T>C
NM_198525.3(KIF7):c.924-19C>T
NM_198525.3(KIF7):c.924-25_924-18del
NM_198525.3(KIF7):c.924-6C>A
NM_198525.3(KIF7):c.939G>C (p.Ser313=)
NM_198525.3(KIF7):c.93G>A (p.Leu31=)
NM_198525.3(KIF7):c.945C>T (p.Gly315=)
NM_198525.3(KIF7):c.948G>T (p.Gly316=)
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538
NM_198525.3(KIF7):c.978C>T (p.Val326=) rs555659148
NM_198525.3(KIF7):c.993C>G (p.Ser331=) rs1365475877

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