ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.7309C>T (p.Gln2437Ter) rs782499772 0.00006
NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter) rs1279778532 0.00001
NM_201378.4(PLEC):c.71-11672dup
NM_201384.3(PLEC):c.11574_11575del (p.Gln3859fs) rs1554674544
NM_201384.3(PLEC):c.2326G>T (p.Glu776Ter) rs781907409

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