ClinVar Miner

List of variants in gene TSC2 reported as likely pathogenic by Invitae

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Total variants: 17
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HGVS dbSNP
NM_000548.3(TSC2):c.1283_1285delCCT (p.Ser428del) rs137853983
NM_000548.3(TSC2):c.1443+5G>C rs1057521562
NM_000548.3(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.3(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.4(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.4(TSC2):c.2459_2461del (p.Ile820del) rs137854128
NM_000548.4(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.4(TSC2):c.3284+1G>A rs45517289
NM_000548.4(TSC2):c.3611-2A>G rs397515169
NM_000548.4(TSC2):c.440C>A (p.Thr147Lys) rs1555497690
NM_000548.4(TSC2):c.4569+1G>T rs1060500972
NM_000548.4(TSC2):c.4569+2T>A rs1555514984
NM_000548.4(TSC2):c.4569+2T>G rs1555514984
NM_000548.4(TSC2):c.4849+1G>A rs45517375
NM_000548.4(TSC2):c.5067_5068+8del
NM_000548.4(TSC2):c.5140delC (p.Gln1714Argfs) rs878854115
NM_000548.4(TSC2):c.5259+1del rs137854317

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