ClinVar Miner

List of variants in gene TSC2 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_000548.5(TSC2):c.2546-12C>T rs13331451 0.21707
NM_000548.5(TSC2):c.5260-49C>T rs13332221 0.19533
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_000548.5(TSC2):c.848+276C>G rs60154230 0.01237
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.01015
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166 0.00749
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_000548.5(TSC2):c.1361+16T>G rs45502491 0.00476
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_000548.5(TSC2):c.1443+18C>T rs375947241 0.00379
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00379
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_000548.5(TSC2):c.848+7G>A rs45442896 0.00376
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_000548.5(TSC2):c.1361+18G>C rs140223009 0.00350
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00096
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000548.5(TSC2):c.138+20C>G rs45517092 0.00041
NM_000548.5(TSC2):c.4493+18G>A rs45454201 0.00017
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771

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