ClinVar Miner

List of variants in gene TSC2 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1172T>A (p.Val391Glu)
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1717-1G>C
NM_000548.5(TSC2):c.1717-3C>A
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala) rs2151296839
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2097+1G>T
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.3096A>G (p.Arg1032=) rs2089803859
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3814+2T>G
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4898_4915del (p.His1633_Lys1638del)
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe) rs45490993
NM_000548.5(TSC2):c.5045T>C (p.Leu1682Pro)
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5069-3_5069-2del rs1114167460
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) rs397515274
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.599+2T>C
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro) rs1596278377
NM_000548.5(TSC2):c.775-2A>G
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
NM_000548.5(TSC2):c.848+2T>A

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