ClinVar Miner

List of variants in gene TSC1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NC_000009.12:g.132944772C>T rs538491949 0.00202
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
NM_000368.5(TSC1):c.*2904G>T rs559978998 0.00163
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.*3830C>T rs544931538 0.00120
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_000368.5(TSC1):c.*4680G>T rs747969932 0.00055
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
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.*3988G>A rs563835484 0.00034
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.346T>G (p.Leu116Val) rs199620268 0.00029
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.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.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000368.5(TSC1):c.513C>T (p.His171=) rs377196837 0.00006
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) rs201165286 0.00005
NM_000368.5(TSC1):c.*2638C>T rs373845353 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 0.00002
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1716C>T (p.Cys572=) rs752202276 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.*1355C>A rs749683153
NM_000368.5(TSC1):c.*295C>A rs113549339
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*3833C>A
NM_000368.5(TSC1):c.-5A>G rs1323766758
NM_000368.5(TSC1):c.107-7G>A rs775150962
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1833A>G (p.Ala611=) rs1240702401
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
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.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.801A>G (p.Thr267=) rs2132002475

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