List of variants in gene PLEC reported as pathogenic by OMIM

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)	rs387906802	0.00002
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)	rs80338756	0.00001
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del)	rs864309673
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs)	rs864309674
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])	rs786205252
NM_201384.3(PLEC):c.2600_2612+1del	rs864309671
NM_201384.3(PLEC):c.2726G>A (p.Trp909Ter)	rs2131745242
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs)	rs786205254
NM_201384.3(PLEC):c.5734del (p.Leu1912fs)	rs786205253
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs)	rs786205251
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter)	rs387906801
NM_201384.3(PLEC):c.832C>T (p.Gln278Ter)	rs137853160
NM_201384.3(PLEC):c.875T>C (p.Leu292Pro)	rs1319844752
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)	rs137853161

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