ClinVar Miner

List of variants in gene TSC2 studied for Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2

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Total variants: 35
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HGVS dbSNP
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077
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.1622C>G (p.Pro541Arg) rs752953762
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556
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.1870G>A (p.Asp624Asn) rs1334081822
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050
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.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg) rs747910305
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
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.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405

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