List of variants in gene combination LOC130001334, PLEC reported as likely benign for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.1245C>G (p.Ala415=)	rs782527499
NM_201384.3(PLEC):c.1245C>T (p.Ala415=)
NM_201384.3(PLEC):c.1248C>T (p.Asp416=)	rs572481168
NM_201384.3(PLEC):c.1254G>C (p.Leu418=)
NM_201384.3(PLEC):c.1263+10_1263+11insCGGTGAGGCAGCAGTCG	rs782042350
NM_201384.3(PLEC):c.1263+14_1263+15insGTGGCAGCAGTCG
NM_201384.3(PLEC):c.1263+15G>A
NM_201384.3(PLEC):c.1263+16G>T
NM_201384.3(PLEC):c.1263+7G>C	rs564072063
NM_201384.3(PLEC):c.1263+7_1263+8delinsCA	rs1554719894
NM_201384.3(PLEC):c.1263+8G>A	rs545715431

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