ClinVar Miner

List of variants in gene TSC2 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 28
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HGVS dbSNP
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.1839+6G>A rs45517204
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.4(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.4(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.4(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.4(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.4(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.4(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.4(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.4(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.262C>T (p.Leu88=) rs45485999
NM_000548.4(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.4(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.4(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.4(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.4(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.4(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.4(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.4(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.4(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.4(TSC2):c.5142G>A (p.Gln1714=) rs147147042
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.4(TSC2):c.729C>G (p.Leu243=) rs45473698

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