ClinVar Miner

List of variants in gene TSC2 reported as benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 78
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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.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.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.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.2239C>T (p.Leu747=) rs45517221 0.00480
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044 0.00061
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr) rs786203769 0.00034
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318 0.00025
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_000548.5(TSC2):c.3611-4G>A rs368926908 0.00012
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595 0.00011
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300 0.00008
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938 0.00008
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076 0.00006
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184 0.00004
NM_000548.5(TSC2):c.108G>A (p.Thr36=) rs781075483 0.00003
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val) rs397514984 0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753 0.00003
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln) rs143168379 0.00003
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285 0.00003
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile) rs559727962 0.00002
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) rs775881847 0.00002
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu) rs776049462 0.00002
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00002
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398 0.00002
NM_000548.5(TSC2):c.1362-5C>T rs372424945 0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 0.00001
NM_000548.5(TSC2):c.2546-4G>A rs746958032 0.00001
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162 0.00001
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262 0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) rs375883030 0.00001
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr) rs774892845 0.00001
NM_000548.5(TSC2):c.4569+4G>A rs1051944517 0.00001
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675 0.00001
NM_000548.5(TSC2):c.866C>T (p.Ala289Val) rs755631210 0.00001
NM_000548.5(TSC2):c.1449G>A (p.Glu483=) rs768511587
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1947-4G>A rs201633455
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) rs45437192
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5292C>T (p.Ser1764=) rs769507440
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) rs137853986

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