ClinVar Miner

List of variants in gene TSC2 studied for Lymphangiomyomatosis

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Total variants: 22
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HGVS dbSNP
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter) rs45480292
NM_000548.5(TSC2):c.1947-4_2030del rs1555505940
NM_000548.5(TSC2):c.2061_2073del (p.Leu688fs) rs137854186
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.3168del (p.Thr1057fs) rs397515127
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.4090dup (p.Ser1364fs) rs397515201
NM_000548.5(TSC2):c.4249del (p.Arg1417fs) rs137854055
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) rs1555439825
NM_000548.5(TSC2):c.5127del (p.Phe1710fs) rs397515164
NM_000548.5(TSC2):c.5195_5196insTGCA (p.Thr1733fs) rs137854400
NM_000548.5(TSC2):c.529_532del (p.Leu177fs) rs137854207
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130
NM_000548.5(TSC2):c.791_808del (p.Leu264_Gly269del) rs397515102

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