ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis 1 by Athena Diagnostics Inc

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Total variants: 21
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HGVS dbSNP
NM_000368.4(TSC1):c.2041+1G>A rs397514842
NM_000368.4(TSC1):c.211-2A>C rs118203352
NM_000368.4(TSC1):c.664-1G>C rs118203423
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.269_270TC[1] (p.Ser91fs) rs118203360
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.5(TSC1):c.897_898CA[2] (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478

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