ClinVar Miner

List of variants in gene SEMA3E studied for not provided

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Gene type:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.1143+41A>G rs2709930 0.97100
NM_012431.3(SEMA3E):c.1143+153T>C rs2722975 0.90970
NM_012431.3(SEMA3E):c.1876-235T>C rs2247532 0.69835
NM_012431.3(SEMA3E):c.277-281C>T rs67888920 0.68062
NM_012431.3(SEMA3E):c.277-240A>G rs3823897 0.68015
NM_012431.3(SEMA3E):c.1501-314T>C rs11764596 0.61293
NM_012431.3(SEMA3E):c.1366+64A>C rs2255906 0.55663
NM_012431.3(SEMA3E):c.1367-245A>G rs2722972 0.55639
NM_012431.3(SEMA3E):c.1500+286G>A rs2723035 0.55632
NM_012431.3(SEMA3E):c.1501-179A>G rs2709974 0.55619
NM_012431.3(SEMA3E):c.999-95A>G rs2722976 0.55526
NM_012431.3(SEMA3E):c.550+40G>A rs2713145 0.52350
NM_012431.3(SEMA3E):c.550+123A>G rs2723033 0.52222
NM_012431.3(SEMA3E):c.998+12A>T rs2245441 0.51207
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985 0.49353
NM_012431.3(SEMA3E):c.671-306C>T rs2709942 0.49341
NM_012431.3(SEMA3E):c.671-47A>T rs2709941 0.49328
NM_012431.3(SEMA3E):c.813+192C>T rs2709940 0.49257
NM_012431.3(SEMA3E):c.928+84C>T rs3735512 0.49256
NM_012431.3(SEMA3E):c.929-64A>C rs2709935 0.49231
NM_012431.3(SEMA3E):c.813+46G>C rs2245312 0.49228
NM_012431.3(SEMA3E):c.551-304T>C rs2709955 0.49149
NM_012431.3(SEMA3E):c.551-305A>G rs2723038 0.49007
NM_012431.3(SEMA3E):c.277-131C>T rs13225391 0.45345
NM_012431.3(SEMA3E):c.337-51G>T rs2713180 0.44884
NM_012431.3(SEMA3E):c.277-176G>A rs3823896 0.44443
NM_012431.3(SEMA3E):c.337-301T>A rs2713181 0.44393
NM_012431.3(SEMA3E):c.277-78A>T rs12534772 0.44041
NM_012431.3(SEMA3E):c.336+232T>C rs2723010 0.43570
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974 0.35335
NM_012431.3(SEMA3E):c.337-38T>C rs7806439 0.34425
NM_012431.3(SEMA3E):c.1736-189G>C rs3801478 0.16090
NM_012431.3(SEMA3E):c.1736-247T>C rs3801479 0.16078
NM_012431.3(SEMA3E):c.1667+288C>A rs10252196 0.16062
NM_012431.3(SEMA3E):c.1668-48C>T rs28665675 0.13147
NM_012431.3(SEMA3E):c.116-314A>G rs3801511 0.12760
NM_012431.3(SEMA3E):c.115+158T>A rs55658764 0.12491
NM_012431.3(SEMA3E):c.1668-172A>G rs78858559 0.12187
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612 0.11028
NM_012431.3(SEMA3E):c.457-84C>T rs3801506 0.09939
NM_012431.3(SEMA3E):c.*196T>A rs3801661 0.09345
NM_012431.3(SEMA3E):c.*71T>A rs75164403 0.09046
NM_012431.3(SEMA3E):c.1876-171G>C rs6467944 0.07824
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545 0.07602
NC_000007.14:g.83649204C>T rs75941905 0.07574
NM_012431.3(SEMA3E):c.*256T>C rs10237682 0.06579
NM_012431.3(SEMA3E):c.-369del rs201079378 0.06567
NM_012431.3(SEMA3E):c.*46A>C rs4473980 0.06527
NM_012431.3(SEMA3E):c.1668-119T>C rs28619166 0.06350
NM_012431.3(SEMA3E):c.1366+41C>T rs73389182 0.05832
NM_012431.3(SEMA3E):c.928+189G>T rs73707826 0.05340
NM_012431.3(SEMA3E):c.1366+85G>A rs12532427 0.05316
NM_012431.3(SEMA3E):c.1500+247A>G rs9691085 0.05195
NC_000007.14:g.83649284G>A rs3823914 0.05095
NM_012431.3(SEMA3E):c.551-154C>T rs73170276 0.04492
NM_012431.3(SEMA3E):c.116-86G>A rs73707854 0.03976
NM_012431.3(SEMA3E):c.1875+60T>C rs60017278 0.03838
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768 0.03837
NM_012431.3(SEMA3E):c.1736-264T>A rs3801480 0.03038
NM_012431.3(SEMA3E):c.-355T>C rs73177155 0.02652
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610 0.02589
NM_012431.3(SEMA3E):c.456+105C>T rs113263243 0.02445
NM_012431.3(SEMA3E):c.-556G>A rs28569958 0.02269
NM_012431.3(SEMA3E):c.456+205C>T rs61553709 0.01857
NM_012431.3(SEMA3E):c.1458+93del rs112861931 0.01427
NM_012431.3(SEMA3E):c.115+157G>A rs111627890 0.01338
NM_012431.3(SEMA3E):c.1876-274C>T rs113176536 0.01206
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908 0.01156
NM_012431.3(SEMA3E):c.1458+174C>T rs76294111 0.01122
NM_012431.3(SEMA3E):c.1367-95G>A rs145078875 0.00993
NM_012431.3(SEMA3E):c.115+317T>C rs73708519 0.00989
NM_012431.3(SEMA3E):c.671-252C>G rs184313223 0.00978
NM_012431.3(SEMA3E):c.1367-231A>C rs147587229 0.00971
NM_012431.3(SEMA3E):c.336+147A>C rs143210340 0.00901
NC_000007.14:g.83649293C>A rs117675153 0.00860
NM_012431.3(SEMA3E):c.-164C>A rs115205083 0.00776
NM_012431.3(SEMA3E):c.1668-167T>C rs76877283 0.00648
NM_012431.3(SEMA3E):c.456+125C>T rs73707849 0.00617
NM_012431.3(SEMA3E):c.1367-206T>C rs560101069 0.00604
NM_012431.3(SEMA3E):c.-268G>A rs116258403 0.00518
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608 0.00518
NM_012431.3(SEMA3E):c.1144-67T>C rs75741745 0.00487
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143 0.00465
NM_012431.3(SEMA3E):c.998+226G>A rs114112551 0.00444
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_012431.3(SEMA3E):c.1458+113C>A rs73707820 0.00383
NM_012431.3(SEMA3E):c.*227T>C rs75632631 0.00352
NM_012431.3(SEMA3E):c.1667+258A>G rs73389159 0.00345
NM_012431.3(SEMA3E):c.1144-180G>A rs556869784 0.00310
NM_012431.3(SEMA3E):c.1875+93T>C rs150116709 0.00293
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991 0.00080
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841 0.00029
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464 0.00015
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg) rs370543242 0.00013
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn) rs201699077 0.00011
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly) rs754158945 0.00010
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507 0.00010
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178 0.00008
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) rs142392597 0.00006
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) rs375067711 0.00005
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) rs746431820 0.00004
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054 0.00004
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) rs201465097 0.00004
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu) rs145267516 0.00004
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly) rs763295904 0.00004
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795 0.00001
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg) rs777818746 0.00001
NM_012431.3(SEMA3E):c.1670G>A (p.Arg557His) rs1064796805 0.00001
NM_012431.3(SEMA3E):c.168T>G (p.Leu56=) rs765373324 0.00001
NM_012431.3(SEMA3E):c.1969G>A (p.Val657Ile) rs747349269 0.00001
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813 0.00001
NM_012431.3(SEMA3E):c.218G>A (p.Gly73Glu) rs894551746 0.00001
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215 0.00001
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg) rs963545974 0.00001
NM_012431.3(SEMA3E):c.652G>A (p.Asp218Asn) rs763424945 0.00001
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val) rs749567149 0.00001
GRCh37/hg19 7q21.11(chr7:82969760-83073851)x1
GRCh37/hg19 7q21.11(chr7:83118607-83183333)x1
GRCh37/hg19 7q21.11(chr7:83118681-83184510)x1
NC_000007.14:g.83649271_83649275del rs2307979
NM_012431.3(SEMA3E):c.*61AAAT[3] rs5885345
NM_012431.3(SEMA3E):c.-340C>T rs200070960
NM_012431.3(SEMA3E):c.-341del rs748082408
NM_012431.3(SEMA3E):c.-341dup rs748082408
NM_012431.3(SEMA3E):c.-342_-341del rs748082408
NM_012431.3(SEMA3E):c.-362dup rs149993646
NM_012431.3(SEMA3E):c.-369G>T rs302114
NM_012431.3(SEMA3E):c.1144-176C>A rs2709926
NM_012431.3(SEMA3E):c.1144-73T>A rs2255820
NM_012431.3(SEMA3E):c.1144-73T>G rs2255820
NM_012431.3(SEMA3E):c.115+30dup rs372307036
NM_012431.3(SEMA3E):c.115+44del rs372307036
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn) rs769258588
NM_012431.3(SEMA3E):c.1307T>C (p.Ile436Thr) rs2115616237
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1367-117T>C rs2709923
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
NM_012431.3(SEMA3E):c.1367-62_1367-61dup rs150931802
NM_012431.3(SEMA3E):c.1367-7C>T rs2115601484
NM_012431.3(SEMA3E):c.1458+89del rs532180668
NM_012431.3(SEMA3E):c.1459-12_1459-11del rs1788078377
NM_012431.3(SEMA3E):c.1459-245_1459-244insCAGAGA rs4016349
NM_012431.3(SEMA3E):c.1459-313T>C rs12112723
NM_012431.3(SEMA3E):c.1459G>A (p.Asp487Asn) rs1788078056
NM_012431.3(SEMA3E):c.1480A>T (p.Met494Leu) rs145819479
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.1500+10GT[10] rs71074649
NM_012431.3(SEMA3E):c.1500+10GT[7] rs71074649
NM_012431.3(SEMA3E):c.1511A>T (p.Tyr504Phe) rs779888216
NM_012431.3(SEMA3E):c.1542C>A (p.Val514=) rs375215258
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) rs2115581814
NM_012431.3(SEMA3E):c.1667+68_1667+71del rs58582279
NM_012431.3(SEMA3E):c.1667+69_1667+71del rs58582279
NM_012431.3(SEMA3E):c.1667+70_1667+71del rs58582279
NM_012431.3(SEMA3E):c.1668-299_1668-297del rs76917252
NM_012431.3(SEMA3E):c.1741G>T (p.Ala581Ser) rs143701381
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1876-171GA[5] rs5885346
NM_012431.3(SEMA3E):c.1876-171GA[6] rs5885346
NM_012431.3(SEMA3E):c.1876-171GA[7] rs5885346
NM_012431.3(SEMA3E):c.1876-173_1876-166del rs754681054
NM_012431.3(SEMA3E):c.1876-173_1876-168del rs200924164
NM_012431.3(SEMA3E):c.1876-173_1876-170del rs142968591
NM_012431.3(SEMA3E):c.1876-199CA[13] rs1336086971
NM_012431.3(SEMA3E):c.1876-257_1876-253del rs71916194
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser) rs900496407
NM_012431.3(SEMA3E):c.1955A>G (p.Tyr652Cys) rs1245933531
NM_012431.3(SEMA3E):c.2034C>G (p.Val678=)
NM_012431.3(SEMA3E):c.2097G>A (p.Gln699=) rs1584195067
NM_012431.3(SEMA3E):c.2109G>T (p.Ser703=) rs759436104
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=) rs2116891865
NM_012431.3(SEMA3E):c.277-284G>T rs116260498
NM_012431.3(SEMA3E):c.305T>C (p.Met102Thr)
NM_012431.3(SEMA3E):c.336+125dup rs3842170
NM_012431.3(SEMA3E):c.337-10C>T rs1554329340
NM_012431.3(SEMA3E):c.337-11del rs536827692
NM_012431.3(SEMA3E):c.337-11dup rs536827692
NM_012431.3(SEMA3E):c.337-7G>T rs1283557314
NM_012431.3(SEMA3E):c.398G>A (p.Cys133Tyr)
NM_012431.3(SEMA3E):c.456+226T>C rs77575170
NM_012431.3(SEMA3E):c.550+121T>G rs2713146
NM_012431.3(SEMA3E):c.550+265G>T rs2713147
NM_012431.3(SEMA3E):c.559T>C (p.Leu187=) rs1584228153
NM_012431.3(SEMA3E):c.621del (p.Arg208fs) rs2115654665
NM_012431.3(SEMA3E):c.671-10G>T rs372840645
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) rs777910966
NM_012431.3(SEMA3E):c.739T>G (p.Phe247Val)
NM_012431.3(SEMA3E):c.813+215C>G rs2709939
NM_012431.3(SEMA3E):c.934G>A (p.Val312Ile) rs996184916
NM_012431.3(SEMA3E):c.990C>G (p.Asn330Lys) rs1554320453

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