ClinVar Miner

List of variants in gene TSC1 reported by Integrated Genetics/Laboratory Corporation of America

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Total variants: 15
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HGVS dbSNP
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.2626-21_2626-20dup rs5901000
NM_000368.4(TSC1):c.2626-4_2626-3insT rs5901000
NM_000368.4(TSC1):c.2626-4delT rs5901000
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123

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