ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance for Tuberous sclerosis syndrome

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000368.5(TSC1):c.*4248C>T rs886063567 0.00010
NM_000368.5(TSC1):c.*2949A>T rs886063588 0.00003
NM_000368.5(TSC1):c.*4845G>T rs886063562 0.00003
NM_000368.4(TSC1):c.-227G>A rs886063629 0.00001
NM_000368.5(TSC1):c.*1519del rs886063607 0.00001
NM_000368.5(TSC1):c.*333C>A rs886063618 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.*1519C>T rs886063608
NM_000368.5(TSC1):c.*1541dup rs748099884
NM_000368.5(TSC1):c.*1612C>A rs886063605
NM_000368.5(TSC1):c.*1969T>C rs886063604
NM_000368.5(TSC1):c.*2022G>T rs568052856
NM_000368.5(TSC1):c.*2213C>A rs539030496
NM_000368.5(TSC1):c.*2364T>A rs886063602
NM_000368.5(TSC1):c.*2439C>A rs886063601
NM_000368.5(TSC1):c.*2475C>A rs886063600
NM_000368.5(TSC1):c.*2615C>A rs886063598
NM_000368.5(TSC1):c.*2632A>G rs886063597
NM_000368.5(TSC1):c.*2644G>T rs886063596
NM_000368.5(TSC1):c.*2658G>T rs886063594
NM_000368.5(TSC1):c.*2679T>C rs886063593
NM_000368.5(TSC1):c.*2691A>T rs886063592
NM_000368.5(TSC1):c.*2893dup rs143549363
NM_000368.5(TSC1):c.*2897A>G rs886063589
NM_000368.5(TSC1):c.*3047C>A rs886063587
NM_000368.5(TSC1):c.*3239G>T rs886063584
NM_000368.5(TSC1):c.*3240G>T rs886063583
NM_000368.5(TSC1):c.*3248_*3250del rs886063582
NM_000368.5(TSC1):c.*3284C>A rs886063581
NM_000368.5(TSC1):c.*3285G>T rs886063580
NM_000368.5(TSC1):c.*3330G>T rs553475307
NM_000368.5(TSC1):c.*3531G>T rs886063579
NM_000368.5(TSC1):c.*3543C>A rs886063578
NM_000368.5(TSC1):c.*3658G>A rs886063577
NM_000368.5(TSC1):c.*3737C>A rs886063576
NM_000368.5(TSC1):c.*3924G>T rs886063575
NM_000368.5(TSC1):c.*3987A>G rs886063574
NM_000368.5(TSC1):c.*4072G>A rs886063573
NM_000368.5(TSC1):c.*4159G>T rs886063571
NM_000368.5(TSC1):c.*4167C>A rs886063570
NM_000368.5(TSC1):c.*4193A>C rs886063569
NM_000368.5(TSC1):c.*4233G>T rs886063568
NM_000368.5(TSC1):c.*4248C>A rs886063567
NM_000368.5(TSC1):c.*4622G>A rs886063564
NM_000368.5(TSC1):c.*4631dup rs60000611
NM_000368.5(TSC1):c.*548C>A rs886063616
NM_000368.5(TSC1):c.*583C>A rs886063615
NM_000368.5(TSC1):c.*817G>T rs886063614
NM_000368.5(TSC1):c.*859G>T rs886063612
NM_000368.5(TSC1):c.*920C>A rs886063611
NM_000368.5(TSC1):c.-174A>T rs886063627
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000368.5(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.5(TSC1):c.2626-3del rs886063622
NM_000368.5(TSC1):c.2626-4_2626-3dup rs1554813638

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