ClinVar Miner

List of variants in gene PLEC reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000445.5(PLEC):c.11655_11656del (p.Gln3886fs) rs1554674544
NM_000445.5(PLEC):c.1321C>T (p.Gln441Ter) rs1554719990
NM_000445.5(PLEC):c.2407G>T (p.Glu803Ter) rs781907409
NM_000445.5(PLEC):c.7390C>T (p.Gln2464Ter) rs782499772
NM_000445.5(PLEC):c.9072C>G (p.Tyr3024Ter) rs1279778532

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