ClinVar Miner

List of variants studied for Tuberous sclerosis 2 by Mendelics

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Total variants: 37
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HGVS dbSNP
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.139-1G>A rs1567386603
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018
NM_000548.5(TSC2):c.1717-2A>C rs1596335963
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala) rs754556513
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter) rs751172150
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter) rs1596356898
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs) rs1596382268
NM_000548.5(TSC2):c.3284+25C>T rs370495938
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3669del (p.Asn1224fs) rs137854223
NM_000548.5(TSC2):c.4005+1G>A rs45517324
NM_000548.5(TSC2):c.4005+2T>C rs137854254
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter) rs1555497641
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter) rs397514976
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg) rs1279603512
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup) rs1596439426
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) rs397515159
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.975+1G>T rs137854200

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