ClinVar Miner

List of variants in gene TSC1 reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP
NM_000368.4(TSC1):c.1029+2T>C rs1554817336
NM_000368.4(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.4(TSC1):c.1324_1325AG[1] (p.Gly443fs) rs1064795285
NM_000368.4(TSC1):c.211-7T>G rs1554820321
NM_000368.4(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.4(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.4(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436

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