ClinVar Miner

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

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Gene type:
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Total variants: 104
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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.1342C>T (p.Pro448Ser) rs118203518 0.00372
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.1263+88A>G rs118203507 0.00250
NC_000009.12:g.132944772C>T rs538491949 0.00202
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.*2904G>T rs559978998 0.00163
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.*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.1526G>A (p.Arg509Gln) rs118203543 0.00070
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.*279T>G rs554637460 0.00061
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.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.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.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.1916G>T (p.Gly639Val) rs372583166 0.00005
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.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 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.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro) rs774009225 0.00001
GRCh37/hg19 9q34.13(chr9:135800974-135801126)x1
NM_000368.5(TSC1):c.*1355C>A rs749683153
NM_000368.5(TSC1):c.*2437G>A
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.-144+134G>T rs375418118
NM_000368.5(TSC1):c.-5A>G rs1323766758
NM_000368.5(TSC1):c.1029+2T>C rs1554817336
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.111del (p.Gly38fs) rs1846929742
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu) rs1845897946
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1610A>G (p.His537Arg) rs1845643427
NM_000368.5(TSC1):c.1732A>G (p.Thr578Ala)
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.1998-2A>C rs1057518217
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.2268dup (p.Glu757fs)
NM_000368.5(TSC1):c.2293C>G (p.Gln765Glu) rs118203673
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2391+12A>G rs2131727338
NM_000368.5(TSC1):c.2502+2T>A
NM_000368.5(TSC1):c.2625+367A>G rs1564474542
NM_000368.5(TSC1):c.2625G>C (p.Lys875Asn) rs777437357
NM_000368.5(TSC1):c.2771del (p.Leu924fs) rs1845139251
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.3170G>T (p.Gly1057Val) rs1588287204
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3394C>A (p.Pro1132Thr)
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.363+667A>T rs1846769659
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.5(TSC1):c.801A>G (p.Thr267=) rs2132002475
NM_000368.5(TSC1):c.809C>A (p.Ser270Ter) rs878853968
NM_000368.5(TSC1):c.903dup (p.Asn302fs) rs1846003590
NM_000368.5(TSC1):c.913+1G>A rs118203470
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920

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