ClinVar Miner

List of variants in gene TSC1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.738-3259C>T rs4367688 0.41783
NM_000368.5(TSC1):c.210+290T>C rs10901223 0.40071
NM_000368.5(TSC1):c.2625+68G>A rs1076160 0.37310
NM_000368.5(TSC1):c.2625+572A>G rs2284902 0.20090
NM_000368.5(TSC1):c.2503-117G>T rs7020438 0.20085
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_000368.5(TSC1):c.2041+268A>G rs12345576 0.20038
NM_000368.5(TSC1):c.2626-117G>A rs12350276 0.19706
NM_000368.5(TSC1):c.1264-191dup rs35494652 0.16060
NM_000368.5(TSC1):c.1439-37C>T rs10901220 0.16021
NM_000368.5(TSC1):c.1333+209C>T rs7872860 0.16018
NM_000368.5(TSC1):c.1438+92G>T rs7870151 0.16012
NM_000368.5(TSC1):c.1439-183C>G rs10901221 0.15999
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000368.5(TSC1):c.1142-33A>G rs6597586 0.15388
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.2502+131C>T rs7020175 0.09439
NM_000368.5(TSC1):c.1264-211G>A rs10901222 0.09433
NM_000368.5(TSC1):c.1334-55C>G rs7872606 0.09429
NM_000368.5(TSC1):c.2208+211G>A rs10901219 0.09428
NM_000368.5(TSC1):c.107-148A>C rs10901224 0.09401
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.2502+51A>G rs75802666 0.04894
NM_000368.5(TSC1):c.2208+171A>G rs2519757 0.04598
NM_000368.5(TSC1):c.737+142T>G rs17408598 0.03973
NM_000368.5(TSC1):c.*376C>T rs114064768 0.02541
NM_000368.5(TSC1):c.2976-43G>C rs7853849 0.02474
NM_000368.5(TSC1):c.2975+101A>G rs112528984 0.02441
NM_000368.5(TSC1):c.1263+315C>T rs142311240 0.01869
NC_000009.12:g.132944745G>T rs144677866 0.01771
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000368.5(TSC1):c.-99C>T rs114755636 0.00347
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.-143-17A>G rs116631378 0.00127
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.-68C>T rs529212875 0.00070
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000368.5(TSC1):c.1998-19T>G rs184408837 0.00037
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp) rs118203723 0.00025
NM_000368.5(TSC1):c.810A>G (p.Ser270=) rs142336706 0.00025
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.2502+18A>C rs200908079 0.00013
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) rs377076733 0.00005
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.-20C>T rs377001111 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) rs118203750 0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) rs568004490 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.*289del rs11323835
NM_000368.5(TSC1):c.-144+9dup rs896447282
NM_000368.5(TSC1):c.1263+106G>A rs113308027
NM_000368.5(TSC1):c.1263+269del rs10712193
NM_000368.5(TSC1):c.1438+164dup rs11349075
NM_000368.5(TSC1):c.1438+182del rs11349075
NM_000368.5(TSC1):c.1439-209G>C rs17149968
NM_000368.5(TSC1):c.1998-172_1998-166del rs3216877
NM_000368.5(TSC1):c.2625+373dup rs36000704
NM_000368.5(TSC1):c.2626-167G>A rs12350315
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2748G>C (p.Leu916=) rs1588290553
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000368.5(TSC1):c.914-58del
NM_000368.5(TSC1):c.914-59_914-58del
NM_000368.5(TSC1):c.914-62_914-58del rs11364856
NM_000368.5(TSC1):c.914-63_914-58del rs11364856

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