ClinVar Miner

List of variants in gene TSC1 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 11
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HGVS dbSNP
NM_000368.4(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
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.810_811AT[1] (p.Ser270_Tyr271insTer) rs118203451
NM_000368.4(TSC1):c.986_987CT[1] (p.Leu330fs) rs118203477
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478

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