List of variants studied for Tuberous sclerosis 1 by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)	rs118203576	0.01347
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	rs75820036	0.00029
NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs)	rs1554817344
NM_000368.5(TSC1):c.1029+3A>G	rs1554817334
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)	rs118203549
NM_000368.5(TSC1):c.1697del (p.Pro566fs)	rs118203563
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs)	rs1554815828
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	rs118203631
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	rs118203682
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)	rs118203732
NM_000368.5(TSC1):c.276dup (p.Leu93fs)	rs118203362
NM_000368.5(TSC1):c.509-1G>A	rs1554819620
NM_000368.5(TSC1):c.737+3A>G	rs118203439
NM_000368.5(TSC1):c.769_776del (p.Ile257fs)	rs1554817676
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)	rs1554817388
NM_000368.5(TSC1):c.989dup (p.Ser331fs)	rs118203478

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