ClinVar Miner

List of variants in gene SYNJ1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.3479-300_3479-299insAA rs10662219 0.99232
NM_203446.3(SYNJ1):c.479+255A>C rs1783099 0.57104
NM_203446.3(SYNJ1):c.948+81G>A rs844975 0.56967
NM_203446.3(SYNJ1):c.3391+99A>T rs2406 0.55662
NM_203446.3(SYNJ1):c.3247+266G>A rs844978 0.55052
NM_203446.3(SYNJ1):c.2145+140A>T rs701734 0.53198
NM_203446.3(SYNJ1):c.1510+15del rs201012663 0.46240
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg) rs2254562 0.29094
NM_203446.3(SYNJ1):c.3518-7G>T rs2833929 0.28042
NM_203446.3(SYNJ1):c.3588+14C>T rs11702774 0.16837
NM_203446.3(SYNJ1):c.1201-3A>T rs844988 0.08382
NM_203446.3(SYNJ1):c.1812-100T>C rs844998 0.08158
NM_203446.3(SYNJ1):c.*3+254A>C rs844985 0.08067
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=) rs2230766 0.07370
NM_203446.3(SYNJ1):c.-23+128C>T rs117275928 0.06596
NM_203446.3(SYNJ1):c.479+9A>G rs76502784 0.03297
NM_203446.3(SYNJ1):c.3588+128G>A rs56238975 0.03292
NM_203446.3(SYNJ1):c.125-148A>C rs74625247 0.02895
NM_203446.3(SYNJ1):c.3392-96T>A rs34001349 0.01811
NM_203446.3(SYNJ1):c.1511-59T>A rs116389986 0.01650
NM_203446.3(SYNJ1):c.851+43A>G rs73194279 0.01622
NM_203446.3(SYNJ1):c.3038-289A>G rs74845933 0.01574
NM_203446.3(SYNJ1):c.3916-135A>G rs114017370 0.01383
NM_203446.3(SYNJ1):c.211+169C>A rs114291633 0.01380
NM_203446.3(SYNJ1):c.3915+5G>T rs61750220 0.01369
NM_203446.3(SYNJ1):c.3589-121T>C rs144067694 0.01339
NM_203446.3(SYNJ1):c.1811+51A>G rs114386610 0.01281
NM_203446.3(SYNJ1):c.1353+27C>T rs80299581 0.01048
NM_203446.3(SYNJ1):c.790-49G>A rs116477798 0.01022
NM_203446.3(SYNJ1):c.*329G>A rs61750217 0.00954
NM_203446.3(SYNJ1):c.1511-320T>C rs146920389 0.00887
NM_203446.3(SYNJ1):c.*3+277T>C rs147290377 0.00809
NM_203446.3(SYNJ1):c.1726+155A>G rs148576574 0.00719
NM_203446.3(SYNJ1):c.1811+266T>A rs115927760 0.00614
NM_203446.3(SYNJ1):c.*611C>T rs76056543 0.00609
NM_203446.3(SYNJ1):c.1511-164C>T rs78594462 0.00576
NM_203446.3(SYNJ1):c.3915+247G>A rs546596367 0.00556
NM_203446.3(SYNJ1):c.1535-142G>A rs151097134 0.00475
NM_203446.3(SYNJ1):c.479+150G>A rs141549722 0.00466
NM_203446.3(SYNJ1):c.1119-8G>T rs138882423 0.00462
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) rs61755328 0.00441
NM_203446.3(SYNJ1):c.3589-264T>C rs79525135 0.00438
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=) rs61756694 0.00406
NM_203446.3(SYNJ1):c.2796-129C>T rs144426013 0.00354
NM_203446.3(SYNJ1):c.*728C>T rs2230767 0.00284
NM_203446.3(SYNJ1):c.2304+55C>T rs566112543 0.00272
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr) rs114942253 0.00255
NM_203446.3(SYNJ1):c.3698-251G>C rs147026277 0.00254
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile) rs115683257 0.00245
NM_203446.3(SYNJ1):c.*315G>A rs145347648 0.00241
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met) rs145937537 0.00200
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_203446.3(SYNJ1):c.*4G>A rs115648918 0.00158
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.*732C>T rs148676465 0.00068
NM_203446.3(SYNJ1):c.*552G>A rs146425050 0.00064
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp) rs142964720 0.00051
NM_203446.3(SYNJ1):c.705+7A>G rs187016397 0.00040
NM_203446.3(SYNJ1):c.*443G>A rs532034867 0.00037
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=) rs145522240 0.00026
NM_203446.3(SYNJ1):c.2874+5G>A rs371765751 0.00024
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) rs144048853 0.00013
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=) rs150595970 0.00012
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro) rs61752559 0.00011
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser) rs151126056 0.00011
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr) rs145978776 0.00010
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser) rs779059079 0.00010
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly) rs148901211 0.00009
NM_203446.3(SYNJ1):c.-31G>C rs751083536 0.00006
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu) rs147025577 0.00006
NM_203446.3(SYNJ1):c.*690G>A rs559102258 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.359G>A (p.Arg120Gln) rs768435291 0.00004
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His) rs376836481 0.00004
NM_203446.3(SYNJ1):c.1511-4A>G rs533995497 0.00003
NM_203446.3(SYNJ1):c.20T>A (p.Phe7Tyr) rs748690832 0.00003
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=) rs551070196 0.00003
NM_203446.3(SYNJ1):c.3595C>T (p.Pro1199Ser) rs760863245 0.00003
NM_203446.3(SYNJ1):c.*278T>G rs61750218 0.00002
NM_203446.3(SYNJ1):c.-49A>G rs780877494 0.00002
NM_203446.3(SYNJ1):c.-59G>A rs771338654 0.00002
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=) rs747138067 0.00002
NM_203446.3(SYNJ1):c.2264T>C (p.Ile755Thr) rs766613161 0.00002
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu) rs765746949 0.00002
NM_203446.3(SYNJ1):c.343C>T (p.Arg115Cys) rs370189840 0.00002
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser) rs371958110 0.00002
NM_203446.3(SYNJ1):c.631C>T (p.Arg211Ter) rs756965178 0.00002
NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val) rs775110785 0.00002
NM_203446.3(SYNJ1):c.*232C>T rs373563239 0.00001
NM_203446.3(SYNJ1):c.*75A>G rs756090874 0.00001
NM_203446.3(SYNJ1):c.1593G>C (p.Lys531Asn) rs1242268350 0.00001
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg) rs748032685 0.00001
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr) rs755258923 0.00001
NM_203446.3(SYNJ1):c.289C>T (p.Arg97Ter) rs2042344677 0.00001
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=) rs1299635688 0.00001
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=) rs757804939 0.00001
NM_203446.3(SYNJ1):c.3551C>T (p.Ala1184Val) rs748917955 0.00001
NM_203446.3(SYNJ1):c.3692C>T (p.Ser1231Leu) rs1052497631 0.00001
NM_203446.3(SYNJ1):c.757G>C (p.Val253Leu) rs890834213 0.00001
NM_203446.3(SYNJ1):c.885A>G (p.Lys295=) rs1219063833 0.00001
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203446.3(SYNJ1):c.*188T>C rs866258846
NM_203446.3(SYNJ1):c.*487C>T
NM_203446.3(SYNJ1):c.*522G>C rs777945782
NM_203446.3(SYNJ1):c.*678C>G rs760299495
NM_203446.3(SYNJ1):c.*801A>G
NM_203446.3(SYNJ1):c.*84dup rs2145660046
NM_203446.3(SYNJ1):c.-23+157dup rs35924673
NM_203446.3(SYNJ1):c.-32G>A
NM_203446.3(SYNJ1):c.1200+55T>C rs75924460
NM_203446.3(SYNJ1):c.124+5G>C rs2146432554
NM_203446.3(SYNJ1):c.1255A>C (p.Thr419Pro) rs1601403593
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln) rs1601403500
NM_203446.3(SYNJ1):c.1535-202del rs931173780
NM_203446.3(SYNJ1):c.1535-202dup rs931173780
NM_203446.3(SYNJ1):c.1726+5G>T
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709
NM_203446.3(SYNJ1):c.2038A>G (p.Thr680Ala) rs752329752
NM_203446.3(SYNJ1):c.212-210G>A rs147026419
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
NM_203446.3(SYNJ1):c.2259T>C (p.Ser753=) rs1601341192
NM_203446.3(SYNJ1):c.2304+1G>T
NM_203446.3(SYNJ1):c.2305-110T>A rs2833936
NM_203446.3(SYNJ1):c.2330A>G (p.Lys777Arg)
NM_203446.3(SYNJ1):c.2461+245T>C rs762227
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203446.3(SYNJ1):c.294T>C (p.Val98=) rs1601468711
NM_203446.3(SYNJ1):c.3009A>C (p.Ala1003=)
NM_203446.3(SYNJ1):c.3067G>A (p.Glu1023Lys) rs1397187104
NM_203446.3(SYNJ1):c.309T>C (p.Phe103=) rs1569111289
NM_203446.3(SYNJ1):c.3126C>A (p.Pro1042=) rs1601264866
NM_203446.3(SYNJ1):c.3140G>A (p.Arg1047Gln)
NM_203446.3(SYNJ1):c.3264G>T (p.Ala1088=) rs1601260544
NM_203446.3(SYNJ1):c.3278C>T (p.Pro1093Leu) rs1326671091
NM_203446.3(SYNJ1):c.3300C>T (p.Ala1100=) rs2040034208
NM_203446.3(SYNJ1):c.3392-202_3392-199del rs142688189
NM_203446.3(SYNJ1):c.3478+1G>A rs1085307987
NM_203446.3(SYNJ1):c.3479-18del rs555916409
NM_203446.3(SYNJ1):c.3479-29T>G rs146753923
NM_203446.3(SYNJ1):c.352G>C (p.Glu118Gln) rs2146213073
NM_203446.3(SYNJ1):c.3607G>A (p.Gly1203Arg) rs2145726317
NM_203446.3(SYNJ1):c.3635C>A (p.Ala1212Glu) rs386352368
NM_203446.3(SYNJ1):c.3760C>T (p.Pro1254Ser)
NM_203446.3(SYNJ1):c.377G>C (p.Gly126Ala) rs1569111034
NM_203446.3(SYNJ1):c.384T>C (p.Phe128=) rs746811167
NM_203446.3(SYNJ1):c.3915+153AT[8] rs112225294
NM_203446.3(SYNJ1):c.46C>T (p.Pro16Ser) rs1487423508
NM_203446.3(SYNJ1):c.504C>T (p.Leu168=) rs1601450035
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu) rs1277503442
NM_203446.3(SYNJ1):c.706-209T>G rs116699197
NM_203446.3(SYNJ1):c.741_745del (p.Gln248fs) rs886039732
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys) rs565013600
NM_203446.3(SYNJ1):c.852-6A>G rs1601422344
NM_203446.3(SYNJ1):c.85G>A (p.Glu29Lys)

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