ClinVar Miner

List of variants in gene TSC2 reported as likely benign for History of neurodevelopmental disorder

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356
NM_000548.5(TSC2):c.1341G>A (p.Ala447=) rs141609319
NM_000548.5(TSC2):c.1473G>A (p.Ser491=) rs764767361
NM_000548.5(TSC2):c.1947-3C>T rs201106259
NM_000548.5(TSC2):c.1977C>T (p.Thr659=) rs369065703
NM_000548.5(TSC2):c.2178C>G (p.Ser726=) rs1380835459
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=) rs373004429
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=) rs369943684
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=) rs771595886
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=) rs1204199739
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile) rs377129517
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496

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