List of variants in gene TCTN2 reported as likely benign for Joubert syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 193

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HGVS	dbSNP	gnomAD frequency
NM_024809.5(TCTN2):c.1505+3G>C	rs111574617	0.00377
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	rs144567556	0.00376
NM_024809.5(TCTN2):c.888G>A (p.Pro296=)	rs116845100	0.00068
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)	rs146698907	0.00039
NM_024809.5(TCTN2):c.612C>T (p.Thr204=)	rs761526808	0.00028
NM_024809.5(TCTN2):c.1770-20A>G	rs538008079	0.00024
NM_024809.5(TCTN2):c.1827C>T (p.Asp609=)	rs150634667	0.00021
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)	rs137939978	0.00021
NM_024809.5(TCTN2):c.190+17T>C	rs369406967	0.00020
NM_024809.5(TCTN2):c.1394-20A>G	rs372424469	0.00014
NM_024809.5(TCTN2):c.588G>A (p.Thr196=)	rs201545344	0.00011
NM_024809.5(TCTN2):c.564+3A>C	rs761089886	0.00008
NM_024809.5(TCTN2):c.669G>A (p.Thr223=)	rs199981419	0.00008
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)	rs372235872	0.00006
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)	rs553095875	0.00006
NM_024809.5(TCTN2):c.1914A>G (p.Thr638=)	rs769763960	0.00006
NM_024809.5(TCTN2):c.764+19G>A	rs371865300	0.00006
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)	rs543166165	0.00004
NM_024809.5(TCTN2):c.1572C>T (p.Ser524=)	rs367689968	0.00004
NM_024809.5(TCTN2):c.1612+11C>T	rs376075139	0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=)	rs201834126	0.00004
NM_024809.5(TCTN2):c.1895+12G>A	rs1248269049	0.00004
NM_024809.5(TCTN2):c.273G>A (p.Val91=)	rs375065995	0.00004
NM_024809.5(TCTN2):c.429T>C (p.Ile143=)	rs188417716	0.00004
NM_024809.5(TCTN2):c.465G>A (p.Glu155=)	rs150583279	0.00004
NM_024809.5(TCTN2):c.468C>T (p.Asn156=)	rs771396774	0.00004
NM_024809.5(TCTN2):c.83-16T>G	rs1223559773	0.00004
NM_024809.5(TCTN2):c.960C>T (p.Cys320=)	rs145332333	0.00004
NM_024809.5(TCTN2):c.1440T>C (p.Phe480=)	rs760942775	0.00003
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)	rs371662397	0.00003
NM_024809.5(TCTN2):c.444T>C (p.Ser148=)	rs771060074	0.00003
NM_024809.5(TCTN2):c.630C>T (p.Asp210=)	rs560269152	0.00003
NM_024809.5(TCTN2):c.83-9C>G	rs775671051	0.00003
NM_024809.5(TCTN2):c.1794C>T (p.Tyr598=)	rs193008632	0.00002
NM_024809.5(TCTN2):c.191-15G>A	rs780792228	0.00002
NM_024809.5(TCTN2):c.210G>T (p.Thr70=)	rs1196817536	0.00002
NM_024809.5(TCTN2):c.510T>C (p.Pro170=)	rs769707766	0.00002
NM_024809.5(TCTN2):c.642T>C (p.Pro214=)	rs747382089	0.00002
NM_024809.5(TCTN2):c.957A>G (p.Lys319=)	rs1331215787	0.00002
NM_024809.5(TCTN2):c.978A>G (p.Leu326=)	rs921429450	0.00002
NM_024809.5(TCTN2):c.1099+10G>A	rs751385319	0.00001
NM_024809.5(TCTN2):c.1235-20T>A	rs773929370	0.00001
NM_024809.5(TCTN2):c.1393+19T>C	rs1434022811	0.00001
NM_024809.5(TCTN2):c.1476C>T (p.Val492=)	rs755762894	0.00001
NM_024809.5(TCTN2):c.1497T>C (p.Thr499=)	rs915966685	0.00001
NM_024809.5(TCTN2):c.1505+12A>G	rs1179038667	0.00001
NM_024809.5(TCTN2):c.1612+13C>T	rs372353543	0.00001
NM_024809.5(TCTN2):c.1613-16C>T	rs777663928	0.00001
NM_024809.5(TCTN2):c.1689C>T (p.His563=)	rs763961375	0.00001
NM_024809.5(TCTN2):c.1824C>T (p.Ala608=)	rs747771800	0.00001
NM_024809.5(TCTN2):c.191-16G>T	rs756369722	0.00001
NM_024809.5(TCTN2):c.191-5T>G	rs755362026	0.00001
NM_024809.5(TCTN2):c.207G>A (p.Pro69=)	rs775096865	0.00001
NM_024809.5(TCTN2):c.255G>C (p.Val85=)	rs1244229343	0.00001
NM_024809.5(TCTN2):c.504T>C (p.Leu168=)	rs1359077600	0.00001
NM_024809.5(TCTN2):c.723T>C (p.Leu241=)	rs373992170	0.00001
NM_024809.5(TCTN2):c.82+7A>C	rs767155532	0.00001
NM_024809.5(TCTN2):c.83-20C>T	rs1311027569	0.00001
NM_024809.5(TCTN2):c.83-6G>A	rs756232884	0.00001
NM_024809.5(TCTN2):c.1008G>A (p.Ala336=)
NM_024809.5(TCTN2):c.1033+13T>A	rs368148687
NM_024809.5(TCTN2):c.1033+18G>C
NM_024809.5(TCTN2):c.1034-12T>C
NM_024809.5(TCTN2):c.1083A>G (p.Lys361=)
NM_024809.5(TCTN2):c.1099+19T>A
NM_024809.5(TCTN2):c.1099+8del
NM_024809.5(TCTN2):c.1100-18A>G
NM_024809.5(TCTN2):c.1107T>A (p.Pro369=)
NM_024809.5(TCTN2):c.1116C>T (p.Asn372=)
NM_024809.5(TCTN2):c.1179C>A (p.Thr393=)
NM_024809.5(TCTN2):c.1209G>A (p.Arg403=)
NM_024809.5(TCTN2):c.1234+7_1234+8del
NM_024809.5(TCTN2):c.1235-5T>C
NM_024809.5(TCTN2):c.1245A>G (p.Thr415=)
NM_024809.5(TCTN2):c.1248G>A (p.Gln416=)	rs766355400
NM_024809.5(TCTN2):c.1293A>G (p.Glu431=)
NM_024809.5(TCTN2):c.1312+14_1312+15del
NM_024809.5(TCTN2):c.1312+17C>T
NM_024809.5(TCTN2):c.1313-14T>C
NM_024809.5(TCTN2):c.1371G>A (p.Thr457=)
NM_024809.5(TCTN2):c.1389A>G (p.Gln463=)
NM_024809.5(TCTN2):c.1393+8G>A
NM_024809.5(TCTN2):c.1394-5T>C
NM_024809.5(TCTN2):c.1449T>C (p.Asn483=)
NM_024809.5(TCTN2):c.147C>A (p.Thr49=)
NM_024809.5(TCTN2):c.147C>T (p.Thr49=)
NM_024809.5(TCTN2):c.1505+13T>C	rs2135849825
NM_024809.5(TCTN2):c.1505+15G>A
NM_024809.5(TCTN2):c.1506-20A>C	rs1011092991
NM_024809.5(TCTN2):c.1545G>A (p.Ala515=)
NM_024809.5(TCTN2):c.1551C>T (p.His517=)
NM_024809.5(TCTN2):c.1569C>T (p.Asn523=)	rs2135852947
NM_024809.5(TCTN2):c.1602C>G (p.Leu534=)	rs752527801
NM_024809.5(TCTN2):c.1612+12C>A
NM_024809.5(TCTN2):c.1612+14G>A
NM_024809.5(TCTN2):c.1612+15G>C
NM_024809.5(TCTN2):c.1612+16G>A
NM_024809.5(TCTN2):c.1612+9A>C
NM_024809.5(TCTN2):c.1641C>T (p.Asp547=)	rs555666775
NM_024809.5(TCTN2):c.1645C>T (p.Leu549=)
NM_024809.5(TCTN2):c.1671C>T (p.Cys557=)
NM_024809.5(TCTN2):c.1692G>A (p.Leu564=)	rs751298784
NM_024809.5(TCTN2):c.1713G>A (p.Ser571=)
NM_024809.5(TCTN2):c.1722C>T (p.Gly574=)	rs557018110
NM_024809.5(TCTN2):c.1725G>A (p.Ala575=)
NM_024809.5(TCTN2):c.1725G>C (p.Ala575=)	rs145483549
NM_024809.5(TCTN2):c.1728G>A (p.Val576=)
NM_024809.5(TCTN2):c.1769+10C>T
NM_024809.5(TCTN2):c.1769+8C>T
NM_024809.5(TCTN2):c.1769+9A>G	rs528667731
NM_024809.5(TCTN2):c.1770-13del	rs1566265391
NM_024809.5(TCTN2):c.1770-18G>A
NM_024809.5(TCTN2):c.1797G>A (p.Gln599=)
NM_024809.5(TCTN2):c.1809C>T (p.Thr603=)
NM_024809.5(TCTN2):c.1815G>A (p.Glu605=)
NM_024809.5(TCTN2):c.1851C>T (p.Val617=)	rs1956235464
NM_024809.5(TCTN2):c.1881C>G (p.Pro627=)
NM_024809.5(TCTN2):c.1881C>T (p.Pro627=)	rs139902134
NM_024809.5(TCTN2):c.1887C>G (p.Pro629=)	rs1276465193
NM_024809.5(TCTN2):c.1896-11A>C	rs2135862710
NM_024809.5(TCTN2):c.1896-14A>G
NM_024809.5(TCTN2):c.1896-18C>A
NM_024809.5(TCTN2):c.18G>A (p.Pro6=)
NM_024809.5(TCTN2):c.190+14C>T
NM_024809.5(TCTN2):c.191-10_191-8del	rs1955759155
NM_024809.5(TCTN2):c.191-12T>G
NM_024809.5(TCTN2):c.191-19G>A
NM_024809.5(TCTN2):c.191-19G>T
NM_024809.5(TCTN2):c.191-20T>C	rs2135814239
NM_024809.5(TCTN2):c.1926C>T (p.Cys642=)
NM_024809.5(TCTN2):c.192A>C (p.Gly64=)
NM_024809.5(TCTN2):c.1950G>A (p.Pro650=)
NM_024809.5(TCTN2):c.1959A>G (p.Leu653=)
NM_024809.5(TCTN2):c.2020C>T (p.Leu674=)
NM_024809.5(TCTN2):c.2029T>C (p.Leu677=)	rs1271806468
NM_024809.5(TCTN2):c.2034C>T (p.Phe678=)
NM_024809.5(TCTN2):c.2085C>G (p.Ala695=)	rs950593517
NM_024809.5(TCTN2):c.210G>A (p.Thr70=)
NM_024809.5(TCTN2):c.234G>A (p.Thr78=)
NM_024809.5(TCTN2):c.246C>T (p.Ser82=)	rs552719113
NM_024809.5(TCTN2):c.258C>A (p.Ile86=)
NM_024809.5(TCTN2):c.267+13G>A
NM_024809.5(TCTN2):c.267+17A>T	rs1593828714
NM_024809.5(TCTN2):c.267+20_267+21delinsAC
NM_024809.5(TCTN2):c.267+21_267+23del	rs768504261
NM_024809.5(TCTN2):c.268-15A>G
NM_024809.5(TCTN2):c.268-15A>T
NM_024809.5(TCTN2):c.273G>T (p.Val91=)
NM_024809.5(TCTN2):c.27T>A (p.Leu9=)
NM_024809.5(TCTN2):c.27T>G (p.Leu9=)	rs942739172
NM_024809.5(TCTN2):c.282G>C (p.Val94=)	rs146257198
NM_024809.5(TCTN2):c.333T>C (p.Asp111=)	rs534113568
NM_024809.5(TCTN2):c.357C>T (p.Ile119=)	rs1335976509
NM_024809.5(TCTN2):c.463+17_463+20del
NM_024809.5(TCTN2):c.464-13G>A
NM_024809.5(TCTN2):c.528A>T (p.Thr176=)
NM_024809.5(TCTN2):c.543T>C (p.Asp181=)
NM_024809.5(TCTN2):c.564+11del	rs767884874
NM_024809.5(TCTN2):c.564+13G>A
NM_024809.5(TCTN2):c.565-5T>G
NM_024809.5(TCTN2):c.585A>G (p.Thr195=)	rs2135834132
NM_024809.5(TCTN2):c.615C>A (p.Gly205=)	rs147485641
NM_024809.5(TCTN2):c.660T>C (p.Ser220=)	rs2135834313
NM_024809.5(TCTN2):c.672G>A (p.Thr224=)
NM_024809.5(TCTN2):c.684C>T (p.Val228=)
NM_024809.5(TCTN2):c.687C>T (p.Pro229=)
NM_024809.5(TCTN2):c.690T>C (p.Asp230=)
NM_024809.5(TCTN2):c.6C>A (p.Gly2=)
NM_024809.5(TCTN2):c.756T>C (p.His252=)	rs1593847530
NM_024809.5(TCTN2):c.764+13_764+14delinsTT	rs2135834618
NM_024809.5(TCTN2):c.764+17C>T
NM_024809.5(TCTN2):c.764+18C>T
NM_024809.5(TCTN2):c.764+19G>T	rs371865300
NM_024809.5(TCTN2):c.764+20C>T
NM_024809.5(TCTN2):c.765-20C>G
NM_024809.5(TCTN2):c.765-9G>A
NM_024809.5(TCTN2):c.771C>A (p.Pro257=)	rs2135836168
NM_024809.5(TCTN2):c.795A>G (p.Val265=)
NM_024809.5(TCTN2):c.82+15G>T
NM_024809.5(TCTN2):c.82+17A>C	rs2135813322
NM_024809.5(TCTN2):c.822T>C (p.Phe274=)
NM_024809.5(TCTN2):c.83-12C>T	rs2135813538
NM_024809.5(TCTN2):c.83-18C>T
NM_024809.5(TCTN2):c.852C>T (p.Pro284=)	rs2135836333
NM_024809.5(TCTN2):c.861T>C (p.Thr287=)
NM_024809.5(TCTN2):c.891+12A>G
NM_024809.5(TCTN2):c.891+18A>G
NM_024809.5(TCTN2):c.891+7_891+8inv
NM_024809.5(TCTN2):c.892-18T>C	rs1319716996
NM_024809.5(TCTN2):c.892-19C>G
NM_024809.5(TCTN2):c.892-7C>T	rs2135839788
NM_024809.5(TCTN2):c.921C>T (p.Asn307=)
NM_024809.5(TCTN2):c.993T>C (p.Asp331=)	rs2135840040

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