ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952 0.00003
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035 0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338 0.00002
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00002
NM_000548.5(TSC2):c.975+7C>T rs372463702 0.00002
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp) rs757844109 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.170G>A (p.Arg57His) rs397514949 0.00001
NM_000548.5(TSC2):c.3974G>A (p.Gly1325Asp) rs754680848 0.00001
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val) rs773527337 0.00001
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) rs777592623 0.00001
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802 0.00001
NM_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1724_1735del (p.Leu575_Leu578del) rs1596336046
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.1883G>C (p.Arg628Pro) rs774895427
NM_000548.5(TSC2):c.2099A>G (p.Glu700Gly)
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2150T>A (p.Leu717Gln) rs45517214
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser) rs182538665
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2529_2537del (p.Glu845_Leu847del) rs1567476034
NM_000548.5(TSC2):c.2837+10G>T rs1232454175
NM_000548.5(TSC2):c.3124C>A (p.Pro1042Thr)
NM_000548.5(TSC2):c.3284G>T (p.Ser1095Ile) rs1555510754
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4016T>A (p.Val1339Asp)
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala) rs1567524174
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4733T>G (p.Leu1578Arg) rs45517367
NM_000548.5(TSC2):c.599+3A>T rs397514899
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp) rs1057523424
NM_000548.5(TSC2):c.956T>A (p.Val319Glu) rs1555499785

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