ClinVar Miner

List of variants studied for Tuberous sclerosis syndrome by CSER _CC_NCGL, University of Washington

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Total variants: 17
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HGVS dbSNP
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) rs201769220
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123

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