ClinVar Miner

List of variants in gene TSC2 reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 21
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HGVS dbSNP
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1120-17C>T rs201704675
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile) rs45498892
NM_000548.5(TSC2):c.3397+15C>T rs202246408
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423

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