ClinVar Miner

List of variants in gene TSC2 reported by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 15
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HGVS dbSNP
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1458del (p.Ser487fs) rs1567437155
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
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.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2479G>A (p.Val827Met) rs543738044
NM_000548.5(TSC2):c.2479_2481GTG[1] (p.Val828del)
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483
NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281

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