List of variants studied for Tuberous sclerosis 2 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)	rs45517158
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	rs397514914
NM_000548.5(TSC2):c.2665del (p.Ala889fs)
NM_000548.5(TSC2):c.2893G>T (p.Glu965Ter)	rs1372107115
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)	rs45517344
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)	rs137854880
NM_000548.5(TSC2):c.4849+1G>C
NM_000548.5(TSC2):c.4849+1del
NM_000548.5(TSC2):c.4878del (p.Thr1627fs)
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)	rs45471896
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)	rs45517382
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)	rs45517111
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000548.5(TSC2):c.648+1G>A	rs45488893
NM_000548.5(TSC2):c.821ACA[1] (p.Asn275del)	rs397514926

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