ClinVar Miner

List of variants studied for Joubert syndrome 17 by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 478
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_015631.6(TCTN3):c.500-11A>T rs11188434 0.18618
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888 0.00320
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084 0.00224
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615 0.00181
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_002601.4(PDE6D):c.140-3C>T rs368073853 0.00079
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303 0.00071
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830 0.00065
NM_015631.6(TCTN3):c.280T>C (p.Leu94=) rs367982164 0.00062
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=) rs150579201 0.00039
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604 0.00034
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) rs34474203 0.00031
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val) rs140103426 0.00026
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_015631.6(TCTN3):c.1096-14C>A rs41291568 0.00022
NM_015631.6(TCTN3):c.537T>C (p.Asn179=) rs141346992 0.00017
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys) rs888502576 0.00016
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly) rs377047502 0.00015
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser) rs149728983 0.00013
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) rs768137956 0.00012
NM_015631.6(TCTN3):c.159G>A (p.Ala53=) rs540555381 0.00012
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg) rs141231095 0.00012
NM_015631.6(TCTN3):c.1452+16T>C rs779934498 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_015631.6(TCTN3):c.1299-11T>C rs532774999 0.00010
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) rs201367852 0.00010
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) rs780308423 0.00010
NM_015631.6(TCTN3):c.576C>T (p.Gly192=) rs143020764 0.00009
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=) rs370069674 0.00008
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile) rs201493612 0.00008
NM_015631.6(TCTN3):c.933G>T (p.Leu311=) rs371380545 0.00008
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=) rs184805842 0.00007
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 0.00007
NM_002601.4(PDE6D):c.201G>A (p.Ser67=) rs764377846 0.00006
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745 0.00006
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg) rs151123934 0.00006
NM_015631.6(TCTN3):c.1096-13C>T rs372991715 0.00006
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=) rs761227686 0.00006
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) rs780304630 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_002601.4(PDE6D):c.174A>G (p.Ala58=) rs139835658 0.00005
NM_015631.6(TCTN3):c.1452+17A>G rs376162804 0.00005
NM_015631.6(TCTN3):c.1591-4G>A rs376757601 0.00005
NM_015631.6(TCTN3):c.488A>G (p.His163Arg) rs376756059 0.00005
NM_015631.6(TCTN3):c.888+10T>C rs746513472 0.00005
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile) rs766118708 0.00004
NM_002601.4(PDE6D):c.50+16C>A rs993589615 0.00004
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273 0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) rs755903123 0.00004
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser) rs755942179 0.00004
NM_015631.6(TCTN3):c.1590+4A>T rs756071891 0.00004
NM_015631.6(TCTN3):c.1591-12T>C rs373643964 0.00004
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr) rs143758863 0.00004
NM_015631.6(TCTN3):c.381-19C>G rs759096352 0.00004
NM_015631.6(TCTN3):c.627+6C>T rs190843846 0.00004
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=) rs771848227 0.00003
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu) rs535199429 0.00003
NM_015631.6(TCTN3):c.153A>G (p.Ser51=) rs937027387 0.00003
NM_015631.6(TCTN3):c.178G>A (p.Val60Met) rs557962090 0.00003
NM_015631.6(TCTN3):c.18C>T (p.Leu6=) rs879694012 0.00003
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_002601.4(PDE6D):c.363C>T (p.Ser121=) rs1206823310 0.00002
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=) rs750698768 0.00002
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr) rs765375312 0.00002
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00002
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu) rs1399269953 0.00002
NM_015631.6(TCTN3):c.1298+16C>T rs777492522 0.00002
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His) rs754607949 0.00002
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn) rs1190331074 0.00002
NM_015631.6(TCTN3):c.1539G>A (p.Pro513=) rs1026823695 0.00002
NM_015631.6(TCTN3):c.1591-9T>G rs1317879597 0.00002
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) rs1290852650 0.00002
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val) rs759598264 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_015631.6(TCTN3):c.499+5G>T rs1242330719 0.00002
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser) rs541135431 0.00002
NM_015631.6(TCTN3):c.889-18G>C rs1254012662 0.00002
NM_015631.6(TCTN3):c.931C>T (p.Leu311=) rs774592467 0.00002
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys) rs1176554738 0.00002
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala) rs1448692172 0.00001
NM_002601.4(PDE6D):c.114del (p.Ser39fs) rs772392692 0.00001
NM_002601.4(PDE6D):c.140-19T>C rs766425103 0.00001
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu) rs1430956453 0.00001
NM_002601.4(PDE6D):c.405C>T (p.Asp135=) rs373459369 0.00001
NM_002601.4(PDE6D):c.50+11G>C rs758184957 0.00001
NM_002601.4(PDE6D):c.50+18G>A rs747869732 0.00001
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His) rs1267547707 0.00001
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala) rs768480385 0.00001
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly) rs745968146 0.00001
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe) rs931265396 0.00001
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987 0.00001
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln) rs1314333060 0.00001
NM_015631.6(TCTN3):c.1203+1G>C rs1221992171 0.00001
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg) rs1194762228 0.00001
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429 0.00001
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val) rs142986132 0.00001
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg) rs773447066 0.00001
NM_015631.6(TCTN3):c.1298+17G>A rs776775920 0.00001
NM_015631.6(TCTN3):c.1299-19C>T rs751339831 0.00001
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=) rs2097944339 0.00001
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser) rs775556315 0.00001
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser) rs2097942068 0.00001
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser) rs1273735180 0.00001
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile) rs767733835 0.00001
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu) rs756561177 0.00001
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter) rs771745084 0.00001
NM_015631.6(TCTN3):c.1590+15A>G rs781078051 0.00001
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val) rs747933488 0.00001
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del) rs891059654 0.00001
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) rs768523448 0.00001
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) rs746968875 0.00001
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr) rs999127884 0.00001
NM_015631.6(TCTN3):c.222G>A (p.Ser74=) rs913092788 0.00001
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr) rs1391185443 0.00001
NM_015631.6(TCTN3):c.257-11T>G rs1201207763 0.00001
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001
NM_015631.6(TCTN3):c.381-3C>T rs546476903 0.00001
NM_015631.6(TCTN3):c.499+11A>G rs1428675552 0.00001
NM_015631.6(TCTN3):c.499+18G>A rs1386147381 0.00001
NM_015631.6(TCTN3):c.507A>G (p.Leu169=) rs1566075059 0.00001
NM_015631.6(TCTN3):c.531G>A (p.Lys177=) rs199774247 0.00001
NM_015631.6(TCTN3):c.549C>T (p.Phe183=) rs1403001274 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.627+18G>A rs763302632 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015631.6(TCTN3):c.627G>A (p.Arg209=) rs752918067 0.00001
NM_015631.6(TCTN3):c.705T>C (p.Ala235=) rs1251898935 0.00001
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala) rs780438906 0.00001
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849 0.00001
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015631.6(TCTN3):c.879G>C (p.Gln293His) rs147928670 0.00001
NM_015631.6(TCTN3):c.883A>G (p.Met295Val) rs746046233 0.00001
NM_015631.6(TCTN3):c.889-15T>G rs760597184 0.00001
NM_015631.6(TCTN3):c.889-9C>T rs924437747 0.00001
NM_015631.6(TCTN3):c.894G>C (p.Gln298His) rs1464905299 0.00001
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys) rs971089853 0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter) rs793888508 0.00001
NM_015631.6(TCTN3):c.945C>T (p.Asn315=) rs763364836 0.00001
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377 0.00001
NC_000002.11:g.(?_231033840)_(234978657_?)dup
NC_000002.11:g.(?_232597662)_(232597763_?)del
NC_000002.11:g.(?_232597662)_(232597763_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_232645755)_(232645824_?)del
NC_000010.10:g.(?_97440209)_(97440386_?)del
NC_000010.10:g.(?_97442388)_(97516032_?)dup
NC_000010.10:g.(?_97452751)_(97453767_?)del
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter) rs1345413118
NM_002601.4(PDE6D):c.117T>A (p.Ser39=) rs2106261946
NM_002601.4(PDE6D):c.126T>G (p.Gly42=) rs2106261935
NM_002601.4(PDE6D):c.139+14C>G
NM_002601.4(PDE6D):c.139+19T>C
NM_002601.4(PDE6D):c.139+20C>G
NM_002601.4(PDE6D):c.15C>T (p.Asp5=) rs2106294236
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
NM_002601.4(PDE6D):c.183A>G (p.Arg61=) rs2106261155
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
NM_002601.4(PDE6D):c.266-3C>T rs2106260539
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro) rs2106260506
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) rs2048708941
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys) rs1023549002
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
NM_002601.4(PDE6D):c.342del (p.Glu114fs)
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
NM_002601.4(PDE6D):c.372-7C>A rs2048664865
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp) rs2106256926
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser) rs1366113264
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
NM_002601.4(PDE6D):c.50+7G>T rs2106294152
NM_002601.4(PDE6D):c.51-12A>G
NM_002601.4(PDE6D):c.51-19del
NM_002601.4(PDE6D):c.51A>C (p.Leu17=) rs1328575509
NM_002601.4(PDE6D):c.66del (p.Arg23fs) rs2106261987
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp) rs570163390
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=) rs747888353
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg) rs1206102625
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=) rs2097946417
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=) rs2139742208
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg) rs982781639
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
NM_015631.6(TCTN3):c.1096-12del
NM_015631.6(TCTN3):c.1096-17C>G
NM_015631.6(TCTN3):c.1096-17C>T
NM_015631.6(TCTN3):c.1096-5T>G
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro) rs200742071
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
NM_015631.6(TCTN3):c.114G>T (p.Leu38=) rs1027956965
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164G>C (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
NM_015631.6(TCTN3):c.1203+18G>A rs1353637039
NM_015631.6(TCTN3):c.1203+20G>A
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
NM_015631.6(TCTN3):c.1204-14C>T
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
NM_015631.6(TCTN3):c.1226del (p.Gly409fs)
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly) rs2139738378
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=) rs368389310
NM_015631.6(TCTN3):c.1298+12C>T
NM_015631.6(TCTN3):c.1298+8T>C
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr) rs2139738242
NM_015631.6(TCTN3):c.1299-15G>A rs1589614065
NM_015631.6(TCTN3):c.1299-17A>G
NM_015631.6(TCTN3):c.1299-18C>T rs2097944406
NM_015631.6(TCTN3):c.1299-4A>G
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=) rs2139737404
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
NM_015631.6(TCTN3):c.138C>T (p.Thr46=) rs887435654
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg) rs2097944204
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser) rs1190331074
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
NM_015631.6(TCTN3):c.1440C>T (p.His480=) rs753883610
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=) rs2139731591
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) rs2139731384
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=) rs201367852
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
NM_015631.6(TCTN3):c.1590+14C>T
NM_015631.6(TCTN3):c.1590+15A>T rs781078051
NM_015631.6(TCTN3):c.1590+8A>G
NM_015631.6(TCTN3):c.1591-7C>G
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) rs143735885
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
NM_015631.6(TCTN3):c.159G>T (p.Ala53=) rs540555381
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
NM_015631.6(TCTN3):c.1647del (p.Thr550fs) rs2139691832
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=) rs2097923995
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) rs2139691743
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=) rs2097923946
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) rs1352225292
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) rs1566062590
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
NM_015631.6(TCTN3):c.182dup (p.Gly62fs) rs763132585
NM_015631.6(TCTN3):c.18C>G (p.Leu6=) rs879694012
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile) rs2097955954
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val) rs2139768503
NM_015631.6(TCTN3):c.256+11A>G
NM_015631.6(TCTN3):c.256+14T>C
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
NM_015631.6(TCTN3):c.257-13C>G
NM_015631.6(TCTN3):c.257-13C>T rs768606622
NM_015631.6(TCTN3):c.257-22_257-19del rs1426583967
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.27G>A (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.27G>T (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter)
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
NM_015631.6(TCTN3):c.2T>A (p.Met1Lys)
NM_015631.6(TCTN3):c.2T>C (p.Met1Thr)
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
NM_015631.6(TCTN3):c.338_341del (p.His113fs) rs761798713
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly) rs2139767099
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser) rs1165732615
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg) rs1005806916
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)
NM_015631.6(TCTN3):c.380+16C>A
NM_015631.6(TCTN3):c.380+16C>T
NM_015631.6(TCTN3):c.381-13T>A
NM_015631.6(TCTN3):c.381-17C>T rs1317078515
NM_015631.6(TCTN3):c.381-18C>T
NM_015631.6(TCTN3):c.381-9T>C
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg) rs533262975
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
NM_015631.6(TCTN3):c.412_413del (p.Val138fs)
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu) rs1489817091
NM_015631.6(TCTN3):c.435G>A (p.Pro145=) rs769335959
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr) rs2139764940
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
NM_015631.6(TCTN3):c.489T>C (p.His163=)
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393
NM_015631.6(TCTN3):c.500-14A>T
NM_015631.6(TCTN3):c.500-19del
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=) rs2139750906
NM_015631.6(TCTN3):c.51C>G (p.Pro17=) rs1482900802
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn) rs2139769650
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.615A>G (p.Pro205=) rs1247615743
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
NM_015631.6(TCTN3):c.627+6C>G
NM_015631.6(TCTN3):c.628-10T>C
NM_015631.6(TCTN3):c.628-12T>C
NM_015631.6(TCTN3):c.628-14T>C
NM_015631.6(TCTN3):c.628-4T>C rs1321301372
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu) rs1406986953
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
NM_015631.6(TCTN3):c.675C>T (p.Ser225=) rs2097949322
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
NM_015631.6(TCTN3):c.710del (p.Gly237fs) rs779729881
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer) rs1276774121
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.736+18G>A
NM_015631.6(TCTN3):c.736+19T>C
NM_015631.6(TCTN3):c.737-18del
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)
NM_015631.6(TCTN3):c.754del (p.Ser252fs) rs2139749042
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.770G>A (p.Arg257His) rs758733887
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
NM_015631.6(TCTN3):c.793dup (p.Ser265fs)
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
NM_015631.6(TCTN3):c.847T>C (p.Leu283=) rs2139748578
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.851dup (p.Val285fs)
NM_015631.6(TCTN3):c.852+4G>A rs2139748541
NM_015631.6(TCTN3):c.852+7G>A rs1275344078
NM_015631.6(TCTN3):c.853-11T>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
NM_015631.6(TCTN3):c.888+13T>C
NM_015631.6(TCTN3):c.888+14G>T rs2139747034
NM_015631.6(TCTN3):c.888+18C>A
NM_015631.6(TCTN3):c.888+3A>T
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs) rs2139744863
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs)
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala) rs546805063
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
NM_015631.6(TCTN3):c.969+17C>T rs2139744560
NM_015631.6(TCTN3):c.969+18A>C
NM_015631.6(TCTN3):c.969+19_969+37del
NM_015631.6(TCTN3):c.970-15C>A rs773472275
NM_015631.6(TCTN3):c.970-15C>G rs773472275
NM_015631.6(TCTN3):c.970-2A>G rs777263669
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys) rs745387147
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu) rs1267152740
NM_015631.6(TCTN3):c.993T>C (p.Asn331=) rs1273105227
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)

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