ClinVar Miner

List of variants studied for Tuberous sclerosis syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000368.5(TSC1):c.1264-1G>C
NM_000368.5(TSC1):c.1997+2T>C
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) rs1588299158
NM_000368.5(TSC1):c.2626-1G>A rs397514847
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2626-2A>G rs118203717
NM_000368.5(TSC1):c.2626-2A>T
NM_000368.5(TSC1):c.2626-2del
NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.959_965del (p.Leu320fs) rs1588324615
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.3214del (p.Ser1072fs) rs137854106
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.4067dup (p.Ile1357fs)
NM_000548.5(TSC2):c.4323dup (p.Glu1442fs) rs137854327
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.4613dup (p.Ser1539fs)
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.481+1G>T rs45488500
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) rs45517115
NM_000548.5(TSC2):c.871dup (p.Leu291fs) rs137854052

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