ClinVar Miner

List of variants studied for Tuberous sclerosis 2 by Baylor Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr) rs786203769 0.00034
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00030
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00013
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852 0.00002
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr) rs777459404 0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754 0.00001
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln) rs751955670 0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490 0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095 0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739 0.00001
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1258-2A>G rs45517160
NM_000548.5(TSC2):c.146G>A (p.Ser49Asn) rs2084956276
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.2222T>G (p.Leu741Arg) rs2088681390
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.3542C>A (p.Thr1181Lys) rs373481458
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.600-2A>T rs45468592

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