ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance by GeneDx

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Total variants: 42
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HGVS dbSNP
NM_000368.4(TSC1):c.-144G>A rs796053468
NM_000368.4(TSC1):c.1030-14T>A rs180810228
NM_000368.4(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.4(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.4(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1429_1431del (p.Lys477del) rs796053469
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.4(TSC1):c.1670T>C (p.Leu557Pro) rs1064796040
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) rs761959210
NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817
NM_000368.4(TSC1):c.1997+5G>C rs1554815679
NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) rs748901883
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.4(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.4(TSC1):c.23G>C (p.Gly8Ala) rs1269896419
NM_000368.4(TSC1):c.2995G>A (p.Gly999Arg) rs780224196
NM_000368.4(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.4(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461
NM_000368.4(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462
NM_000368.4(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439
NM_000368.4(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.4(TSC1):c.363+3_363+18del rs1554820251
NM_000368.4(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.508+3A>G rs1554819862
NM_000368.4(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591

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