ClinVar Miner

List of variants studied for Tuberous sclerosis 2 by Revvity Omics, Revvity

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358 0.00011
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.1347G>A (p.Met449Ile) rs45443091 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063 0.00001
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr) rs758301934 0.00001
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610 0.00001
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242 0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.4568A>G (p.Glu1523Gly) rs777406873 0.00001
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu) rs373635516 0.00001
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu) rs781139561 0.00001
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.1158C>A (p.Asp386Glu) rs2151154909
NM_000548.5(TSC2):c.1361+1G>T rs45517164
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2072G>A (p.Arg691His) rs370553131
NM_000548.5(TSC2):c.2252G>T (p.Arg751Leu) rs749593050
NM_000548.5(TSC2):c.2261del (p.Pro754fs) rs137854021
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2389A>G (p.Ile797Val) rs1240217406
NM_000548.5(TSC2):c.2597C>T (p.Ala866Val) rs1261601321
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.3127A>T (p.Lys1043Ter) rs2151435107
NM_000548.5(TSC2):c.336+1G>T rs45517102
NM_000548.5(TSC2):c.3397+1G>A rs137854208
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys) rs1555497641
NM_000548.5(TSC2):c.4011del (p.Ser1338fs) rs2544254027
NM_000548.5(TSC2):c.4057del (p.Val1353fs) rs2544256966
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) rs1173061992
NM_000548.5(TSC2):c.4141C>T (p.Pro1381Ser) rs2090497403
NM_000548.5(TSC2):c.424G>A (p.Val142Ile) rs2151043003
NM_000548.5(TSC2):c.449G>A (p.Gly150Glu) rs2151043854
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.481+1G>A rs45488500
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.4990-1G>A rs1555439650
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5069-2A>G rs45487291
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter) rs45517410
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.596T>A (p.Val199Asp) rs1555498243

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