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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.(?_145008466)_(145012880_?)dup
NM_201378.4(PLEC):c.70+2T>C	rs2132991287
NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter)	rs1554675388
NM_201384.3(PLEC):c.1738-2A>C
NM_201384.3(PLEC):c.1973_1977+2del
NM_201384.3(PLEC):c.2178+2T>G
NM_201384.3(PLEC):c.2457+1G>A
NM_201384.3(PLEC):c.3261-1G>A	rs111730406
NM_201384.3(PLEC):c.826-1G>A
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter)	rs1554683108

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