ClinVar Miner

List of variants in gene TSC1 reported by Baylor Genetics

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Gene type:
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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.106+4A>G rs373075566 0.00001
NM_000368.5(TSC1):c.1263+5G>A rs767745683 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) rs1343881428 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647 0.00001
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) rs1374339026 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) rs1845082733 0.00001
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) rs1554820281 0.00001
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser) rs1210523479 0.00001
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr) rs747053008 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) rs1470270925 0.00001
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) rs747251435 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106
NM_000368.5(TSC1):c.1030-5C>G rs1588323218
NM_000368.5(TSC1):c.107-1G>C
NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu)
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp) rs1460150475
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser) rs1845904238
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1264-2A>G
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe) rs1564482602
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) rs1588309702
NM_000368.5(TSC1):c.173T>C (p.Leu58Ser)
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) rs1588309097
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg)
NM_000368.5(TSC1):c.2012G>T (p.Ser671Ile) rs1845546239
NM_000368.5(TSC1):c.203A>T (p.His68Leu)
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) rs1845511359
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro)
NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg)
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) rs1845494587
NM_000368.5(TSC1):c.2185C>G (p.Leu729Val)
NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys)
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2208+7A>T
NM_000368.5(TSC1):c.225G>C (p.Arg75Ser)
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) rs118203675
NM_000368.5(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro)
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) rs76667066
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) rs1845329722
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) rs1176815392
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer) rs1588287475
NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del)
NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg)
NM_000368.5(TSC1):c.323C>T (p.Ser108Phe)
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) rs747053008
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp)
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) rs1845031012
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr) rs2131585152
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
NM_000368.5(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser) rs1846672854
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
NM_000368.5(TSC1):c.507A>G (p.Pro169=) rs1846669296
NM_000368.5(TSC1):c.526T>C (p.Tyr176His)
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.664-43C>G
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.796C>G (p.Pro266Ala)
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu) rs118203459
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671

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