ClinVar Miner

List of variants in gene TSC2 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148 0.00030
NM_000548.5(TSC2):c.3132-13C>T rs371948435 0.00001
NM_000548.5(TSC2):c.3284+6T>G rs375837026 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000548.5(TSC2):c.1119+7T>G rs778981693
NM_000548.5(TSC2):c.1583dup (p.Asp529fs) rs2087032456
NM_000548.5(TSC2):c.2966+24del rs1188094714
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile) rs752248140
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer) rs137854157
NM_000548.5(TSC2):c.3132-3T>C rs2089821106
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.4262G>C (p.Gly1421Ala) rs1368001965
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4662+1G>A rs45514095
NM_000548.5(TSC2):c.501G>A (p.Trp167Ter) rs755728007
NM_000548.5(TSC2):c.5160+4A>C rs45517403
NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala) rs759007975
NM_000548.5(TSC2):c.848+281C>T rs45517132

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