ClinVar Miner

List of variants in gene TSC1 reported as pathogenic for not provided

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Total variants: 85
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HGVS dbSNP
NM_000368.4(TSC1):c.107-1G>A rs1064793494
NM_000368.4(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.4(TSC1):c.1157del (p.Thr386fs) rs1554817164
NM_000368.4(TSC1):c.1160_1161CT[1] (p.Leu388fs) rs1064793844
NM_000368.4(TSC1):c.1165G>T (p.Gly389Ter) rs886041524
NM_000368.4(TSC1):c.1198_1199CT[1] (p.Cys401fs) rs1554817140
NM_000368.4(TSC1):c.1264-1G>A rs1554816432
NM_000368.4(TSC1):c.1367dup (p.Ser457fs) rs1554816245
NM_000368.4(TSC1):c.1388del (p.Phe462_Leu463insTer) rs1064796237
NM_000368.4(TSC1):c.1441del (p.Ala481fs) rs796053466
NM_000368.4(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer) rs1064793693
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1509dup (p.Asp504Ter) rs796053470
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.1533dup (p.Leu512fs) rs1554816029
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.4(TSC1):c.1696_1697insTC (p.Pro566fs) rs1064794760
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1702_1703del (p.Gly568fs) rs397514777
NM_000368.4(TSC1):c.1713del (p.Glu571fs) rs796053471
NM_000368.4(TSC1):c.1727del (p.Leu576fs) rs886041684
NM_000368.4(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.4(TSC1):c.1902_1903CA[1] (p.Thr635fs) rs118203597
NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.4(TSC1):c.1997+1G>A rs118203610
NM_000368.4(TSC1):c.1998-2A>G rs1057518217
NM_000368.4(TSC1):c.2001_2004del (p.Leu667fs) rs1554815476
NM_000368.4(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer) rs886042012
NM_000368.4(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.4(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs) rs1057517842
NM_000368.4(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter) rs397514874
NM_000368.4(TSC1):c.2156del (p.Leu719fs) rs886041456
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.4(TSC1):c.2292_2293insT (p.Gln765fs) rs1064794504
NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.4(TSC1):c.2483_2486TCAG[1] (p.Ser829fs) rs886039735
NM_000368.4(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.4(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.4(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.4(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.4(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.4(TSC1):c.2626G>T (p.Glu876Ter) rs747602915
NM_000368.4(TSC1):c.2641A>T (p.Lys881Ter) rs1057520444
NM_000368.4(TSC1):c.2656A>T (p.Lys886Ter) rs1554813568
NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.4(TSC1):c.2866C>T (p.Gln956Ter) rs1554813331
NM_000368.4(TSC1):c.451_455delinsTTTC (p.Leu151fs) rs1554819900
NM_000368.4(TSC1):c.491G>A (p.Trp164Ter) rs118203387
NM_000368.4(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.4(TSC1):c.587del (p.Pro196fs) rs796053464
NM_000368.4(TSC1):c.590_594del (p.Cys197fs) rs1064796162
NM_000368.4(TSC1):c.651_663dup (p.Pro222fs) rs1554819509
NM_000368.4(TSC1):c.661A>T (p.Lys221Ter) rs1564497826
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.664-1G>A rs118203423
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.737+1G>A rs118203438
NM_000368.4(TSC1):c.737+1G>T rs118203438
NM_000368.4(TSC1):c.737_737+1dup rs118203435
NM_000368.4(TSC1):c.738-2A>T rs118203440
NM_000368.4(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs) rs886041977
NM_000368.4(TSC1):c.897_898CA[2] (p.Gln301fs) rs118203464
NM_000368.4(TSC1):c.914-2A>G rs886041638
NM_000368.4(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.4(TSC1):c.989_990insTT (p.Leu330_Ser331insTer) rs118203478
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_001362177.2(TSC1):c.-186dup rs886041959

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