List of variants reported as pathogenic for Tuberous sclerosis 2 by Athena Diagnostics Inc

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)	rs45517340	0.00003
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)	rs45517159
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	rs45517169
NM_000548.5(TSC2):c.1444-2A>G	rs45517174
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)	rs397515297
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)	rs137854144
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)	rs45517213
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)	rs45517222
NM_000548.5(TSC2):c.226-2A>G	rs45517096
NM_000548.5(TSC2):c.2355+2_2355+5del	rs137854250
NM_000548.5(TSC2):c.2356-2A>C	rs45517229
NM_000548.5(TSC2):c.2639+1G>C	rs45517252
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)	rs137854155
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	rs45517258
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)	rs137854076
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)	rs137854314
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)	rs45451497
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)	rs137854210
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)	rs45517327
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)	rs397515009
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)	rs137854363
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)	rs45517337
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)	rs137854175
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)	rs397515020
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)	rs137854141
NM_000548.5(TSC2):c.4989+1G>A	rs45517386
NM_000548.5(TSC2):c.5160+1G>A	rs45517399
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)	rs45472701
NM_000548.5(TSC2):c.5252_5259+19del	rs137854397
NM_000548.5(TSC2):c.5259+1del	rs137854317
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)	rs137854359
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)	rs45517118
NM_000548.5(TSC2):c.648+1G>A	rs45488893
NM_000548.5(TSC2):c.826_827del (p.Met276fs)	rs137853977
NM_000548.5(TSC2):c.848+1G>A	rs45466296

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