ClinVar Miner

List of variants in gene TSC2 reported as likely pathogenic by GeneDx

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Total variants: 26
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HGVS dbSNP
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del) rs1085307591
NM_000548.5(TSC2):c.1119G>C (p.Gln373His) rs1057523727
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) rs1057523509
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del) rs1555507504
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro) rs1057522911
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu) rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del) rs1064795156
NM_000548.5(TSC2):c.5259+2T>G rs1555440894
NM_000548.5(TSC2):c.5260-1G>C rs1057518103
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.976-10C>A rs765990217

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