ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance for not specified

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00007
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) rs753907159 0.00004
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.1258-5G>T rs925954967 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251 0.00003
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His) rs201694466 0.00003
NM_000548.5(TSC2):c.3610+4C>T rs201978396 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000548.5(TSC2):c.975+7C>T rs372463702 0.00002
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala) rs760205499 0.00001
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178 0.00001
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp) rs878854087 0.00001
NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg) rs772215032 0.00001
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln) rs746588726 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.5291G>A (p.Ser1764Asn) rs138831802 0.00001
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val) rs1051758 0.00001
NM_000548.5(TSC2):c.5320A>G (p.Ser1774Gly) rs368083145 0.00001
NM_000548.5(TSC2):c.1202A>C (p.His401Pro) rs2086691569
NM_000548.5(TSC2):c.1214A>T (p.Glu405Val) rs1057518321
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.2150T>A (p.Leu717Gln) rs45517214
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup) rs1298756950
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser) rs1596356675
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu) rs368878445
NM_000548.5(TSC2):c.379A>G (p.Ile127Val) rs1207714822
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3884-7C>T rs1277989059
NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr) rs1248093496
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4362T>A (p.Ser1454Arg) rs1320400029
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr) rs777529733
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4663-5C>A
NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr) rs2090852831
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu) rs1064796970
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) rs45517408
NM_000548.5(TSC2):c.5303T>A (p.Val1768Glu) rs1171556696
NM_000548.5(TSC2):c.5324_5325dup (p.Ala1776fs) rs2151639909
NM_000548.5(TSC2):c.593T>C (p.Met198Thr) rs45517114
NM_000548.5(TSC2):c.599+3A>T rs397514899
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp) rs1057523424
NM_000548.5(TSC2):c.955G>T (p.Val319Leu)
NM_000548.5(TSC2):c.956T>A (p.Val319Glu) rs1555499785

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