ClinVar Miner

List of variants in gene TSC2 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
GRCh37/hg19 16p13.3(chr16:2098168-2100457)x1
GRCh37/hg19 16p13.3(chr16:2114273-2122984)x1
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del) rs137853998
NM_000548.5(TSC2):c.132dup (p.Leu45fs) rs2150973810
NM_000548.5(TSC2):c.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361+1G>T rs45517164
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1610_1617dup (p.Ser540fs) rs2087224465
NM_000548.5(TSC2):c.1758_1759del (p.Val586_Tyr587insTer) rs397515116
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2157T>G (p.Tyr719Ter) rs902456479
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3190_3285-15del
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3950dup (p.Leu1317fs) rs2151512451
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.481+5G>T rs137854135
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4924_4936del (p.Gly1642fs) rs2151587004
NM_000548.5(TSC2):c.5003_5004del (p.Phe1668fs) rs2151611619
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs) rs137854037
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) rs45517125
NM_000548.5(TSC2):c.775-2del rs2085953535
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977

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