ClinVar Miner

List of variants studied for tuberous sclerosis 2 by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260

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