ClinVar Miner

List of variants in gene TSC2 reported as not provided by ITMI

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_000548.3(TSC2):c.-30+1G>T rs587778004
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.3(TSC2):c.3846_3855delCTGCCAAGGAinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.3(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.4(TSC2):c.1066G>C (p.Val356Leu) rs587778728
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.4(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.4(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.4(TSC2):c.1600G>T (p.Val534Leu) rs587778729
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.1820C>T (p.Ala607Val) rs397515296
NM_000548.4(TSC2):c.1912G>A (p.Val638Met) rs587778730
NM_000548.4(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.4(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.4(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.4(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.4(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.4(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.4(TSC2):c.2768C>G (p.Ser923Cys) rs587778731
NM_000548.4(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.4(TSC2):c.336+101delG rs587778006
NM_000548.4(TSC2):c.336+10A>G rs587778005
NM_000548.4(TSC2):c.336+197C>G rs587778007
NM_000548.4(TSC2):c.336+229C>T rs587778008
NM_000548.4(TSC2):c.336+233T>C rs144712953
NM_000548.4(TSC2):c.336+32C>T rs45517103
NM_000548.4(TSC2):c.336+377T>C rs79357051
NM_000548.4(TSC2):c.336+385C>G rs587778009
NM_000548.4(TSC2):c.3413G>A (p.Arg1138Gln) rs143168379
NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.4(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.4(TSC2):c.3542C>T (p.Thr1181Met) rs373481458
NM_000548.4(TSC2):c.3884-150G>A rs587778010
NM_000548.4(TSC2):c.3884-47G>T rs375126574
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3913_3916delCCGGinsTGGA (p.Pro1305_Gly1306delinsTrpSer) rs587778735
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.4(TSC2):c.3963G>C (p.Glu1321Asp) rs587778737
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.4(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738
NM_000548.4(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.4(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.4(TSC2):c.4335G>T (p.Leu1445Phe) rs587778739
NM_000548.4(TSC2):c.4465G>A (p.Ala1489Thr) rs587778740
NM_000548.4(TSC2):c.4901G>A (p.Arg1634His) rs201694466
NM_000548.4(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.4(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.595G>C (p.Val199Leu) rs587778733
NM_000548.4(TSC2):c.846C>A (p.Asp282Glu) rs587778734
NM_000548.4(TSC2):c.856A>G (p.Met286Val) rs1800748

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