ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 4
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NM_201378.4(PLEC):c.11308C>T (p.Gln3770Ter) rs1554675388
NM_201378.4(PLEC):c.3219-1G>A rs111730406
NM_201378.4(PLEC):c.8958_8959delinsTT (p.Gln2987Ter) rs1554683108

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