ClinVar Miner

List of variants in gene TSC2 reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_000548.5(TSC2):c.4662+11G>A rs761569930 0.00004
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) rs587778729 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000548.5(TSC2):c.139-6C>T rs778516569 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_000548.5(TSC2):c.257C>T (p.Ala86Val) rs1369594860 0.00001
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val) rs777282955 0.00001
NM_000548.5(TSC2):c.1258-8T>G rs1175574879
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.1716+263G>A
NM_000548.5(TSC2):c.2024_2034del (p.Ala675fs) rs2151306395
NM_000548.5(TSC2):c.2728C>T (p.Pro910Ser) rs1319146226
NM_000548.5(TSC2):c.3205G>C (p.Val1069Leu) rs2151438862
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=) rs368923127
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.648+20A>G rs2151071929
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr) rs772558666
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) rs878854122

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