ClinVar Miner

List of variants in gene TSC1 reported as pathogenic by Ambry Genetics

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Total variants: 12
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NM_000368.4(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.4(TSC1):c.1724del (p.Ser575fs) rs1554815889
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2530C>T (p.Gln844Ter) rs1114167619
NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.4(TSC1):c.389_390delinsT (p.Thr130fs) rs1554819932
NM_000368.4(TSC1):c.637dup (p.Leu213fs) rs1114167620
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.812_813delAT rs118203451
NM_000368.4(TSC1):c.988_989delCT rs118203477
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478

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