ClinVar Miner

List of variants studied for Tuberous sclerosis 2 by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University

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ClinVar version:
Total variants: 77
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HGVS dbSNP
NC_000016.10:g.2071858_2074085del2228insTAAGCACTTAGTCTCCT
NC_000016.10:g.2075896_2075905delinsTACGGCAGGGGTTGCCGTACACCAACCCCT
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter) rs1596298721
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer)
NM_000548.5(TSC2):c.1276del (p.Asn425_Leu426insTer)
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1476G>C (p.Gln492His)
NM_000548.5(TSC2):c.1487del (p.Ile496fs)
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1628dup (p.Glu544fs) rs397515204
NM_000548.5(TSC2):c.1739_1740insT (p.Ser581fs)
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1856_1858TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1946+1G>A rs397514994
NM_000548.5(TSC2):c.1981_2020del (p.Gly661fs)
NM_000548.5(TSC2):c.2098-2A>T
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2475_2503del (p.Leu826fs)
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs) rs397515115
NM_000548.5(TSC2):c.3294dup (p.Gly1099fs)
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs) rs397514952
NM_000548.5(TSC2):c.364del (p.Leu122fs)
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.4005+1G>A rs45517324
NM_000548.5(TSC2):c.4006-2A>T
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter) rs397515035
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) rs137854045
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) rs886041772
NM_000548.5(TSC2):c.4287dup (p.Trp1430fs)
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs) rs137854425
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.45_51del (p.Lys16fs) rs397514958
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter)
NM_000548.5(TSC2):c.4798_4804dup (p.Glu1602delinsValTrpTer)
NM_000548.5(TSC2):c.4850-2A>G rs397515315
NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
NM_000548.5(TSC2):c.5017del (p.Val1673fs)
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter) rs397515205
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5361C>T (p.Gly1787=)
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs) rs397514972
NM_000548.5(TSC2):c.5418_5419TG[2] (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs)
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)
NM_000548.5(TSC2):c.979_980dup (p.Met327fs) rs397515176
NM_000548.5(TSC2):c.993C>T (p.Asn331=) rs45517153

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