ClinVar Miner

List of variants reported as likely benign for Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 542
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_203446.3(SYNJ1):c.*728C>T rs2230767 0.00284
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr) rs114942253 0.00255
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met) rs145937537 0.00200
NM_203446.3(SYNJ1):c.*4G>A rs115648918 0.00158
NM_203446.3(SYNJ1):c.*761C>T rs111516740 0.00143
NM_203446.3(SYNJ1):c.*223A>G rs113978322 0.00139
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly) rs149817769 0.00105
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=) rs61753644 0.00088
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr) rs147929290 0.00074
NM_203446.3(SYNJ1):c.*552G>A rs146425050 0.00064
NM_203446.3(SYNJ1):c.*443G>A rs532034867 0.00037
NM_203446.3(SYNJ1):c.*312C>T rs149199429 0.00036
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=) rs115658799 0.00030
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=) rs145522240 0.00026
NM_203446.3(SYNJ1):c.125-17A>G rs113560074 0.00024
NM_203446.3(SYNJ1):c.2874+5G>A rs371765751 0.00024
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=) rs111774827 0.00024
NM_203446.3(SYNJ1):c.*333C>T rs548047319 0.00023
NM_203446.3(SYNJ1):c.2875-5G>A rs376206541 0.00021
NM_203446.3(SYNJ1):c.1726+18T>C rs780148215 0.00019
NM_203446.3(SYNJ1):c.1953-10T>C rs368736353 0.00018
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=) rs574473408 0.00018
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=) rs764207431 0.00017
NM_203446.3(SYNJ1):c.3517+13G>C rs370311881 0.00016
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu) rs149288077 0.00016
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=) rs140461566 0.00016
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=) rs151248057 0.00016
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=) rs148732160 0.00016
NM_203446.3(SYNJ1):c.-34C>T rs968709804 0.00014
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=) rs76972835 0.00013
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=) rs267606107 0.00013
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=) rs150595970 0.00012
NM_203446.3(SYNJ1):c.2795+16T>A rs533093953 0.00011
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser) rs779059079 0.00010
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=) rs149236383 0.00009
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=) rs547415470 0.00009
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=) rs201117151 0.00009
NM_203446.3(SYNJ1):c.2304+20A>G rs142813430 0.00008
NM_203446.3(SYNJ1):c.2795+10T>C rs756959605 0.00008
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=) rs369978981 0.00008
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=) rs143244716 0.00007
NM_203446.3(SYNJ1):c.3588+20G>A rs1001527639 0.00007
NM_203446.3(SYNJ1):c.*411C>T rs369666497 0.00006
NM_203446.3(SYNJ1):c.-31G>C rs751083536 0.00006
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly) rs202234473 0.00006
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=) rs111655347 0.00006
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=) rs140112176 0.00006
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=) rs112875942 0.00006
NM_203446.3(SYNJ1):c.2580-20A>G rs770095122 0.00006
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr) rs537389515 0.00006
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=) rs534726886 0.00006
NM_203446.3(SYNJ1):c.3392-5A>G rs776721216 0.00006
NM_203446.3(SYNJ1):c.3697+12T>G rs763338383 0.00006
NM_203446.3(SYNJ1):c.*618A>G rs139212871 0.00005
NM_203446.3(SYNJ1):c.*721C>T rs748387512 0.00005
NM_203446.3(SYNJ1):c.1119-7G>C rs562245468 0.00005
NM_203446.3(SYNJ1):c.1510+20T>C rs112067922 0.00005
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val) rs115989459 0.00005
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=) rs144454116 0.00005
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=) rs115204185 0.00005
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=) rs376132504 0.00005
NM_203446.3(SYNJ1):c.211+19A>G rs553611765 0.00004
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=) rs753774552 0.00004
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=) rs771973400 0.00004
NM_203446.3(SYNJ1):c.3248-18C>T rs538157711 0.00004
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=) rs923667676 0.00004
NM_203446.3(SYNJ1):c.3392-20A>G rs375300586 0.00004
NM_203446.3(SYNJ1):c.480-17A>C rs1030947495 0.00004
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=) rs763090745 0.00004
NM_203446.3(SYNJ1):c.*666A>G rs763776246 0.00003
NM_203446.3(SYNJ1):c.*729G>A rs771278245 0.00003
NM_203446.3(SYNJ1):c.*738C>T rs747245690 0.00003
NM_203446.3(SYNJ1):c.-22-10G>A rs375719186 0.00003
NM_203446.3(SYNJ1):c.-23+11C>T rs1000113626 0.00003
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=) rs763601982 0.00003
NM_203446.3(SYNJ1):c.125-13del rs763797914 0.00003
NM_203446.3(SYNJ1):c.1511-4A>G rs533995497 0.00003
NM_203446.3(SYNJ1):c.1534+16T>A rs1244807022 0.00003
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=) rs150180190 0.00003
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=) rs141138675 0.00003
NM_203446.3(SYNJ1):c.2146-8G>A rs759701632 0.00003
NM_203446.3(SYNJ1):c.243C>T (p.Val81=) rs769645055 0.00003
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=) rs746832641 0.00003
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile) rs377350366 0.00003
NM_203446.3(SYNJ1):c.3037+18A>G rs780721031 0.00003
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=) rs551070196 0.00003
NM_203446.3(SYNJ1):c.3392-8A>T rs533064963 0.00003
NM_203446.3(SYNJ1):c.3431-8C>A rs369584002 0.00003
NM_203446.3(SYNJ1):c.705+17A>G rs751404810 0.00003
NM_203446.3(SYNJ1):c.706-19A>G rs544943206 0.00003
NM_203446.3(SYNJ1):c.790-20A>G rs754054175 0.00003
NM_203446.3(SYNJ1):c.*148A>C rs777068962 0.00002
NM_203446.3(SYNJ1):c.*720T>C rs1016040846 0.00002
NM_203446.3(SYNJ1):c.*762G>A rs763042220 0.00002
NM_203446.3(SYNJ1):c.*9A>G rs758118019 0.00002
NM_203446.3(SYNJ1):c.-49A>G rs780877494 0.00002
NM_203446.3(SYNJ1):c.-64C>T rs869206401 0.00002
NM_203446.3(SYNJ1):c.-73C>G rs772641102 0.00002
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=) rs779977140 0.00002
NM_203446.3(SYNJ1):c.1566G>A (p.Glu522=) rs1314584710 0.00002
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=) rs1384171922 0.00002
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=) rs747138067 0.00002
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=) rs987102051 0.00002
NM_203446.3(SYNJ1):c.2145+13T>C rs779562990 0.00002
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=) rs766117241 0.00002
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=) rs374390032 0.00002
NM_203446.3(SYNJ1):c.2715A>G (p.Pro905=) rs771107718 0.00002
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=) rs1432339434 0.00002
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=) rs879835661 0.00002
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=) rs1436978655 0.00002
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys) rs1367145848 0.00002
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=) rs771394723 0.00002
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=) rs576444776 0.00002
NM_203446.3(SYNJ1):c.3693G>A (p.Ser1231=) rs755437097 0.00002
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=) rs765653482 0.00002
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=) rs759164699 0.00002
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly) rs565807712 0.00002
NM_203446.3(SYNJ1):c.480-18T>G rs1242153000 0.00002
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=) rs376985894 0.00002
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile) rs749045961 0.00002
NC_000021.9:g.32728032C>T rs1250657533 0.00001
NM_203446.3(SYNJ1):c.*108A>G rs371381727 0.00001
NM_203446.3(SYNJ1):c.*120G>A rs377721268 0.00001
NM_203446.3(SYNJ1):c.*132C>A rs373469623 0.00001
NM_203446.3(SYNJ1):c.*174G>A rs745464855 0.00001
NM_203446.3(SYNJ1):c.*187T>C rs748722673 0.00001
NM_203446.3(SYNJ1):c.*195T>G rs1323976540 0.00001
NM_203446.3(SYNJ1):c.*21C>A rs756737216 0.00001
NM_203446.3(SYNJ1):c.*270C>T rs748033451 0.00001
NM_203446.3(SYNJ1):c.*390G>A rs769253550 0.00001
NM_203446.3(SYNJ1):c.*393C>T rs140696929 0.00001
NM_203446.3(SYNJ1):c.*513T>C rs373455294 0.00001
NM_203446.3(SYNJ1):c.*519C>T rs2039314679 0.00001
NM_203446.3(SYNJ1):c.*522G>A rs777945782 0.00001
NM_203446.3(SYNJ1):c.*540C>T rs141012977 0.00001
NM_203446.3(SYNJ1):c.*665C>G rs150753892 0.00001
NM_203446.3(SYNJ1):c.*741C>T rs1281984634 0.00001
NM_203446.3(SYNJ1):c.*75A>G rs756090874 0.00001
NM_203446.3(SYNJ1):c.*798T>C rs1007414965 0.00001
NM_203446.3(SYNJ1):c.-19T>A rs1447119337 0.00001
NM_203446.3(SYNJ1):c.-23+19G>A rs2043549128 0.00001
NM_203446.3(SYNJ1):c.-23+20G>A rs1022879813 0.00001
NM_203446.3(SYNJ1):c.-37G>A rs1297512201 0.00001
NM_203446.3(SYNJ1):c.-61C>T rs932881262 0.00001
NM_203446.3(SYNJ1):c.1118+7C>T rs752329632 0.00001
NM_203446.3(SYNJ1):c.1118+9G>A rs1241098561 0.00001
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=) rs747274485 0.00001
NM_203446.3(SYNJ1):c.1281A>G (p.Ser427=) rs1256463338 0.00001
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=) rs919941488 0.00001
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=) rs144728528 0.00001
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=) rs753893833 0.00001
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=) rs1461901564 0.00001
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=) rs749212329 0.00001
NM_203446.3(SYNJ1):c.1824G>A (p.Gln608=) rs371628726 0.00001
NM_203446.3(SYNJ1):c.1848G>A (p.Gln616=) rs1601348530 0.00001
NM_203446.3(SYNJ1):c.2146-14C>G rs775638018 0.00001
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=) rs924156740 0.00001
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=) rs2040867289 0.00001
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=) rs142455194 0.00001
NM_203446.3(SYNJ1):c.2304+9A>G rs1569062470 0.00001
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=) rs755696516 0.00001
NM_203446.3(SYNJ1):c.2795+7T>C rs780616248 0.00001
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=) rs374794895 0.00001
NM_203446.3(SYNJ1):c.2875-20T>C rs187333014 0.00001
NM_203446.3(SYNJ1):c.2875-4C>A rs1231504349 0.00001
NM_203446.3(SYNJ1):c.2875-6C>T rs183558612 0.00001
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr) rs911362591 0.00001
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=) rs1445704945 0.00001
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=) rs763564076 0.00001
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=) rs1299635688 0.00001
NM_203446.3(SYNJ1):c.3273A>C (p.Ala1091=) rs1282370368 0.00001
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=) rs757804939 0.00001
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=) rs372510070 0.00001
NM_203446.3(SYNJ1):c.3391+15T>A rs754412906 0.00001
NM_203446.3(SYNJ1):c.3430+12C>T rs1468489631 0.00001
NM_203446.3(SYNJ1):c.3431-10C>T rs774777679 0.00001
NM_203446.3(SYNJ1):c.3517+10C>T rs1373208718 0.00001
NM_203446.3(SYNJ1):c.3518-17T>C rs773319067 0.00001
NM_203446.3(SYNJ1):c.351A>G (p.Ser117=) rs144142216 0.00001
NM_203446.3(SYNJ1):c.3588+15G>A rs540863552 0.00001
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val) rs386352368 0.00001
NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=) rs745882722 0.00001
NM_203446.3(SYNJ1):c.3765G>A (p.Pro1255=) rs781500048 0.00001
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=) rs750931400 0.00001
NM_203446.3(SYNJ1):c.3840G>A (p.Leu1280=) rs2039703499 0.00001
NM_203446.3(SYNJ1):c.3915+10A>G rs1167944043 0.00001
NM_203446.3(SYNJ1):c.480-7C>T rs748707134 0.00001
NM_203446.3(SYNJ1):c.706-7T>C rs1482528429 0.00001
NM_203446.3(SYNJ1):c.706-8T>C rs752261171 0.00001
NM_203446.3(SYNJ1):c.711G>A (p.Val237=) rs780954414 0.00001
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=) rs766187063 0.00001
NM_203446.3(SYNJ1):c.790-18A>G rs764219821 0.00001
NM_203446.3(SYNJ1):c.834T>C (p.Asn278=) rs776217239 0.00001
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=) rs372016074 0.00001
NM_203446.3(SYNJ1):c.851+20G>C rs778826127 0.00001
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=) rs1326451805 0.00001
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=) rs201322530 0.00001
NM_203446.3(SYNJ1):c.948+7A>G rs777999783 0.00001
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=) rs759120326 0.00001
NC_000021.9:g.32728023G>A
NC_000021.9:g.32728035C>T
NM_203446.3(SYNJ1):c.*117A>G
NM_203446.3(SYNJ1):c.*135C>T
NM_203446.3(SYNJ1):c.*168T>C
NM_203446.3(SYNJ1):c.*189G>A
NM_203446.3(SYNJ1):c.*18A>G
NM_203446.3(SYNJ1):c.*195T>C rs1323976540
NM_203446.3(SYNJ1):c.*210A>C
NM_203446.3(SYNJ1):c.*234G>A
NM_203446.3(SYNJ1):c.*234G>T rs777299829
NM_203446.3(SYNJ1):c.*291C>G
NM_203446.3(SYNJ1):c.*303T>G rs2145657976
NM_203446.3(SYNJ1):c.*321T>C
NM_203446.3(SYNJ1):c.*345C>T
NM_203446.3(SYNJ1):c.*363G>A
NM_203446.3(SYNJ1):c.*387A>G
NM_203446.3(SYNJ1):c.*396T>C rs776168774
NM_203446.3(SYNJ1):c.*4-10T>C
NM_203446.3(SYNJ1):c.*4-17C>T rs2145660723
NM_203446.3(SYNJ1):c.*4-18G>A
NM_203446.3(SYNJ1):c.*4-19T>C
NM_203446.3(SYNJ1):c.*453A>G
NM_203446.3(SYNJ1):c.*459A>G rs2039318354
NM_203446.3(SYNJ1):c.*474G>A rs767728958
NM_203446.3(SYNJ1):c.*576A>G
NM_203446.3(SYNJ1):c.*60A>C rs1020861731
NM_203446.3(SYNJ1):c.*60A>G rs1020861731
NM_203446.3(SYNJ1):c.*633C>T rs2145655621
NM_203446.3(SYNJ1):c.*634C>T
NM_203446.3(SYNJ1):c.*639A>G
NM_203446.3(SYNJ1):c.*669T>C
NM_203446.3(SYNJ1):c.*677_*679del rs528030561
NM_203446.3(SYNJ1):c.*681T>C
NM_203446.3(SYNJ1):c.*684G>A
NM_203446.3(SYNJ1):c.*690G>T
NM_203446.3(SYNJ1):c.*750A>G
NM_203446.3(SYNJ1):c.*753T>C rs2145654435
NM_203446.3(SYNJ1):c.*762G>C
NM_203446.3(SYNJ1):c.*783A>G
NM_203446.3(SYNJ1):c.*801A>G
NM_203446.3(SYNJ1):c.-22-19C>G
NM_203446.3(SYNJ1):c.-22-4G>A rs771283717
NM_203446.3(SYNJ1):c.-22-4G>T
NM_203446.3(SYNJ1):c.-22-5C>T
NM_203446.3(SYNJ1):c.-23+11C>A
NM_203446.3(SYNJ1):c.-23+12_-23+13dup
NM_203446.3(SYNJ1):c.-23+16G>A
NM_203446.3(SYNJ1):c.-23+16G>C rs905741954
NM_203446.3(SYNJ1):c.-23+16G>T
NM_203446.3(SYNJ1):c.-23+8A>G
NM_203446.3(SYNJ1):c.-25G>A rs2146446925
NM_203446.3(SYNJ1):c.-40G>A
NM_203446.3(SYNJ1):c.-4G>A
NM_203446.3(SYNJ1):c.-51A>C rs1394751497
NM_203446.3(SYNJ1):c.-58C>T
NM_203446.3(SYNJ1):c.-61C>A rs932881262
NM_203446.3(SYNJ1):c.-64C>A rs869206401
NM_203446.3(SYNJ1):c.-64C>G rs869206401
NM_203446.3(SYNJ1):c.-70C>T
NM_203446.3(SYNJ1):c.-73C>A
NM_203446.3(SYNJ1):c.-76C>A
NM_203446.3(SYNJ1):c.-79T>G
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=) rs2146090232
NM_203446.3(SYNJ1):c.102G>A (p.Glu34=)
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=) rs2041819587
NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)
NM_203446.3(SYNJ1):c.1116A>G (p.Gln372=)
NM_203446.3(SYNJ1):c.1118+11T>G
NM_203446.3(SYNJ1):c.1118+14G>A
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=) rs1382405019
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=) rs1179626154
NM_203446.3(SYNJ1):c.1200+19A>G
NM_203446.3(SYNJ1):c.1201-16_1201-15del rs2041629073
NM_203446.3(SYNJ1):c.1201-17C>A
NM_203446.3(SYNJ1):c.1201-8T>G
NM_203446.3(SYNJ1):c.1227T>C (p.Leu409=)
NM_203446.3(SYNJ1):c.124+12G>T
NM_203446.3(SYNJ1):c.124+19C>G
NM_203446.3(SYNJ1):c.124+19C>T
NM_203446.3(SYNJ1):c.124+20C>T rs2043472963
NM_203446.3(SYNJ1):c.1249T>C (p.Leu417=)
NM_203446.3(SYNJ1):c.1269A>G (p.Glu423=)
NM_203446.3(SYNJ1):c.126A>G (p.Ser42=) rs1286622528
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=) rs1286622528
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=) rs969673470
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=) rs1468223961
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=) rs964382126
NM_203446.3(SYNJ1):c.1350G>A (p.Ala450=)
NM_203446.3(SYNJ1):c.1353+15A>C rs372526476
NM_203446.3(SYNJ1):c.1353+15A>G
NM_203446.3(SYNJ1):c.1353+20A>G
NM_203446.3(SYNJ1):c.1353+7C>T
NM_203446.3(SYNJ1):c.1389T>A (p.Ile463=)
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=) rs2146025354
NM_203446.3(SYNJ1):c.1425C>G (p.Ala475=)
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=) rs2042422021
NM_203446.3(SYNJ1):c.1510+14A>G
NM_203446.3(SYNJ1):c.1511-16_1511-14del
NM_203446.3(SYNJ1):c.1534+9T>C rs754756374
NM_203446.3(SYNJ1):c.1535-18G>A rs1170021366
NM_203446.3(SYNJ1):c.1605A>G (p.Val535=)
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=) rs150180190
NM_203446.3(SYNJ1):c.1617C>A (p.Thr539=) rs2145981618
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=) rs745320827
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=) rs1374033047
NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=) rs2041277581
NM_203446.3(SYNJ1):c.1726+10_1726+11insA rs2145980880
NM_203446.3(SYNJ1):c.1727-11C>T
NM_203446.3(SYNJ1):c.1727-19C>T
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=) rs761358064
NM_203446.3(SYNJ1):c.1797C>T (p.Asn599=)
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=) rs1449222569
NM_203446.3(SYNJ1):c.1811+12A>G
NM_203446.3(SYNJ1):c.1811+8A>G rs900904083
NM_203446.3(SYNJ1):c.1811+8_1811+9insCTT rs1780660901
NM_203446.3(SYNJ1):c.1811+9G>A rs772164147
NM_203446.3(SYNJ1):c.1812-10T>A rs2040942245
NM_203446.3(SYNJ1):c.1812-16T>G rs1165805994
NM_203446.3(SYNJ1):c.1842A>G (p.Glu614=)
NM_203446.3(SYNJ1):c.1845T>A (p.Leu615=)
NM_203446.3(SYNJ1):c.1851G>A (p.Lys617=) rs2145927066
NM_203446.3(SYNJ1):c.1854A>G (p.Thr618=)
NM_203446.3(SYNJ1):c.186C>T (p.Leu62=)
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=) rs1601348321
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=) rs2145926496
NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)
NM_203446.3(SYNJ1):c.1952+17C>T
NM_203446.3(SYNJ1):c.1952+19C>T rs2145926225
NM_203446.3(SYNJ1):c.1953-16A>C
NM_203446.3(SYNJ1):c.1953-9G>T
NM_203446.3(SYNJ1):c.2037T>C (p.His679=) rs2145923461
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=) rs780909870
NM_203446.3(SYNJ1):c.2055C>T (p.Phe685=) rs765857459
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=) rs1411849491
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=) rs2145923177
NM_203446.3(SYNJ1):c.2091C>G (p.Val697=)
NM_203446.3(SYNJ1):c.2091C>T (p.Val697=)
NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)
NM_203446.3(SYNJ1):c.211+11C>T
NM_203446.3(SYNJ1):c.212-13T>C
NM_203446.3(SYNJ1):c.212-15C>A
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
NM_203446.3(SYNJ1):c.2145+14G>A
NM_203446.3(SYNJ1):c.2145+18G>A
NM_203446.3(SYNJ1):c.2145+8C>A
NM_203446.3(SYNJ1):c.2145+8C>G
NM_203446.3(SYNJ1):c.2146-12C>G
NM_203446.3(SYNJ1):c.2169C>T (p.Asp723=)
NM_203446.3(SYNJ1):c.2196C>T (p.Asn732=)
NM_203446.3(SYNJ1):c.219T>A (p.Thr73=)
NM_203446.3(SYNJ1):c.219T>C (p.Thr73=)
NM_203446.3(SYNJ1):c.2211C>G (p.Leu737=)
NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)
NM_203446.3(SYNJ1):c.2277A>G (p.Gln759=)
NM_203446.3(SYNJ1):c.2298T>C (p.Ala766=)
NM_203446.3(SYNJ1):c.2304+15G>C
NM_203446.3(SYNJ1):c.2304+17_2304+20del
NM_203446.3(SYNJ1):c.2305-15A>G
NM_203446.3(SYNJ1):c.2305-17G>C
NM_203446.3(SYNJ1):c.231T>C (p.Tyr77=)
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=) rs367656251
NM_203446.3(SYNJ1):c.2385C>G (p.Thr795=)
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=) rs1429532362
NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)
NM_203446.3(SYNJ1):c.2421T>C (p.Arg807=)
NM_203446.3(SYNJ1):c.2462-19T>C rs2145854148
NM_203446.3(SYNJ1):c.2462-5T>C
NM_203446.3(SYNJ1):c.2462-6C>A rs1601309850
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=) rs1601309726
NM_203446.3(SYNJ1):c.249A>T (p.Gly83=)
NM_203446.3(SYNJ1):c.24G>T (p.Arg8=) rs2146433761
NM_203446.3(SYNJ1):c.2514G>C (p.Leu838=) rs1367273913
NM_203446.3(SYNJ1):c.2529A>C (p.Pro843=)
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr) rs1601309236
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=) rs61756207
NM_203446.3(SYNJ1):c.2579+14C>G
NM_203446.3(SYNJ1):c.2579+14_2579+15del rs2040484641
NM_203446.3(SYNJ1):c.2580-14C>T rs2145852326
NM_203446.3(SYNJ1):c.2580-20A>C
NM_203446.3(SYNJ1):c.2580-7C>T rs2040478967
NM_203446.3(SYNJ1):c.2580-9T>C rs1601308461
NM_203446.3(SYNJ1):c.2586C>G (p.Val862=)
NM_203446.3(SYNJ1):c.258T>C (p.Ser86=)
NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=) rs2145851928
NM_203446.3(SYNJ1):c.2658T>C (p.Ile886=)
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=) rs939655575
NM_203446.3(SYNJ1):c.2733T>C (p.Asp911=)
NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=) rs2145850907
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=) rs1479701930
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=) rs1350091132
NM_203446.3(SYNJ1):c.2795+16T>C
NM_203446.3(SYNJ1):c.2795+20A>G
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=) rs1250410568
NM_203446.3(SYNJ1):c.2875-15_2875-14del
NM_203446.3(SYNJ1):c.2875-17C>G
NM_203446.3(SYNJ1):c.2877A>G (p.Leu959=)
NM_203446.3(SYNJ1):c.297T>C (p.Thr99=)
NM_203446.3(SYNJ1):c.2991C>T (p.Thr997=)
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=) rs2145809247
NM_203446.3(SYNJ1):c.300C>T (p.Ser100=)
NM_203446.3(SYNJ1):c.3015T>C (p.Val1005=) rs2145809068
NM_203446.3(SYNJ1):c.3018A>G (p.Ala1006=)
NM_203446.3(SYNJ1):c.3038-12G>A
NM_203446.3(SYNJ1):c.3054T>C (p.Tyr1018=)
NM_203446.3(SYNJ1):c.3060T>A (p.Ala1020=)
NM_203446.3(SYNJ1):c.319C>A (p.Arg107=)
NM_203446.3(SYNJ1):c.3216G>A (p.Pro1072=)
NM_203446.3(SYNJ1):c.3237C>G (p.Pro1079=)
NM_203446.3(SYNJ1):c.3237C>T (p.Pro1079=)
NM_203446.3(SYNJ1):c.3248-12T>C
NM_203446.3(SYNJ1):c.3248-15C>A
NM_203446.3(SYNJ1):c.3248-16_3248-14del
NM_203446.3(SYNJ1):c.3248-19C>T rs2145777077
NM_203446.3(SYNJ1):c.3248-21_3248-19del
NM_203446.3(SYNJ1):c.3248-4T>C
NM_203446.3(SYNJ1):c.3248-6T>C
NM_203446.3(SYNJ1):c.3248-6T>G rs567223330
NM_203446.3(SYNJ1):c.3248-9G>A
NM_203446.3(SYNJ1):c.3252T>G (p.Ser1084=)
NM_203446.3(SYNJ1):c.3270A>C (p.Pro1090=)
NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=) rs376395608
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=) rs376395608
NM_203446.3(SYNJ1):c.3303G>A (p.Gln1101=)
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=) rs1601259728
NM_203446.3(SYNJ1):c.3360G>A (p.Pro1120=)
NM_203446.3(SYNJ1):c.3363T>C (p.Ala1121=)
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=) rs368850131
NM_203446.3(SYNJ1):c.3391+8C>T rs779010105
NM_203446.3(SYNJ1):c.3392-10G>C rs2145769480
NM_203446.3(SYNJ1):c.3392-12A>G
NM_203446.3(SYNJ1):c.3392-13T>C
NM_203446.3(SYNJ1):c.3392-4T>C
NM_203446.3(SYNJ1):c.3392-5A>T rs776721216
NM_203446.3(SYNJ1):c.3393G>A (p.Gly1131=) rs1057304410
NM_203446.3(SYNJ1):c.3396T>C (p.Ala1132=) rs1220663745
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=) rs1162976890
NM_203446.3(SYNJ1):c.3431-11del
NM_203446.3(SYNJ1):c.3431-6A>G rs1017765033
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=) rs2145756410
NM_203446.3(SYNJ1):c.3459A>G (p.Val1153=)
NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)
NM_203446.3(SYNJ1):c.3478+12C>T rs2145756030
NM_203446.3(SYNJ1):c.3478+13T>C
NM_203446.3(SYNJ1):c.3478+16C>G
NM_203446.3(SYNJ1):c.3478+17A>G
NM_203446.3(SYNJ1):c.3478+9A>T
NM_203446.3(SYNJ1):c.3479-14T>C rs2039869790
NM_203446.3(SYNJ1):c.3479-18T>C
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=) rs2039868331
NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)
NM_203446.3(SYNJ1):c.3517+7A>G rs2145744971
NM_203446.3(SYNJ1):c.3518-18A>G
NM_203446.3(SYNJ1):c.3518-20A>G
NM_203446.3(SYNJ1):c.3518-9T>C rs2039859473
NM_203446.3(SYNJ1):c.3558A>T (p.Pro1186=) rs755614050
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=) rs1404447301
NM_203446.3(SYNJ1):c.3588+15G>C
NM_203446.3(SYNJ1):c.3588+7A>G rs990106590
NM_203446.3(SYNJ1):c.3589-16T>C rs369384628
NM_203446.3(SYNJ1):c.3589-16T>G rs369384628
NM_203446.3(SYNJ1):c.3589-17dup
NM_203446.3(SYNJ1):c.3589-4G>A
NM_203446.3(SYNJ1):c.3589-8A>T rs2145726735
NM_203446.3(SYNJ1):c.3657G>A (p.Leu1219=)
NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=) rs1446522492
NM_203446.3(SYNJ1):c.3697+15G>A
NM_203446.3(SYNJ1):c.3697+8C>T rs2145725329
NM_203446.3(SYNJ1):c.3698-12C>T
NM_203446.3(SYNJ1):c.3698-13A>G
NM_203446.3(SYNJ1):c.3698-15C>T
NM_203446.3(SYNJ1):c.3698-19A>G
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=) rs2145720898
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met) rs2230766
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=) rs138579227
NM_203446.3(SYNJ1):c.3747G>C (p.Pro1249=)
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=) rs138579227
NM_203446.3(SYNJ1):c.3756T>C (p.Ser1252=)
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=) rs1601231568
NM_203446.3(SYNJ1):c.3846C>G (p.Thr1282=)
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=) rs1601230798
NM_203446.3(SYNJ1):c.387T>C (p.Tyr129=) rs2042340576
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=) rs372695378
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=) rs372695378
NM_203446.3(SYNJ1):c.3915+18C>A
NM_203446.3(SYNJ1):c.3915+20C>G
NM_203446.3(SYNJ1):c.3915+20C>T
NM_203446.3(SYNJ1):c.3915+7C>G rs2145719045
NM_203446.3(SYNJ1):c.393A>G (p.Ala131=)
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=) rs2146212579
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=) rs151248057
NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)
NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)
NM_203446.3(SYNJ1):c.479+13T>A rs1684291610
NM_203446.3(SYNJ1):c.479+17C>T
NM_203446.3(SYNJ1):c.480-18T>A
NM_203446.3(SYNJ1):c.480-5A>G rs1001176616
NM_203446.3(SYNJ1):c.516C>T (p.Gly172=)
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=) rs2146174688
NM_203446.3(SYNJ1):c.540A>G (p.Leu180=)
NM_203446.3(SYNJ1):c.552T>C (p.Cys184=)
NM_203446.3(SYNJ1):c.561A>G (p.Val187=)
NM_203446.3(SYNJ1):c.576T>A (p.Ile192=)
NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)
NM_203446.3(SYNJ1):c.63A>T (p.Ile21=)
NM_203446.3(SYNJ1):c.654C>G (p.Val218=)
NM_203446.3(SYNJ1):c.702A>G (p.Glu234=)
NM_203446.3(SYNJ1):c.705+8T>C
NM_203446.3(SYNJ1):c.705+9A>G rs2042154034
NM_203446.3(SYNJ1):c.706-13T>A
NM_203446.3(SYNJ1):c.706-15T>C
NM_203446.3(SYNJ1):c.706-16del
NM_203446.3(SYNJ1):c.750A>G (p.Arg250=)
NM_203446.3(SYNJ1):c.759T>G (p.Val253=) rs111290161
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=) rs2146165828
NM_203446.3(SYNJ1):c.783G>A (p.Gly261=)
NM_203446.3(SYNJ1):c.789+10T>C rs1601446146
NM_203446.3(SYNJ1):c.789+20T>C
NM_203446.3(SYNJ1):c.789+8_789+11del rs751922511
NM_203446.3(SYNJ1):c.790-14T>G
NM_203446.3(SYNJ1):c.807C>G (p.Val269=)
NM_203446.3(SYNJ1):c.851+10T>C rs745840084
NM_203446.3(SYNJ1):c.851+15A>G
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys) rs565013600
NM_203446.3(SYNJ1):c.852-10_852-7del rs764989740
NM_203446.3(SYNJ1):c.852-16T>C
NM_203446.3(SYNJ1):c.852-20T>C rs1436283724
NM_203446.3(SYNJ1):c.864A>G (p.Thr288=)
NM_203446.3(SYNJ1):c.876A>G (p.Leu292=)
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln) rs554456240
NM_203446.3(SYNJ1):c.918A>G (p.Glu306=)
NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)
NM_203446.3(SYNJ1):c.949-15C>T rs371013716
NM_203446.3(SYNJ1):c.949-31_949-2del rs1281313151
NM_203446.3(SYNJ1):c.949-7C>T
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=) rs1601418926

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.