ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.737G>T (p.Arg246Met)
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) rs137853988
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392

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