List of variants in gene LEMD3 reported as pathogenic for Dermatofibrosis lenticularis disseminata

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_014319.5(LEMD3):c.1033_1035delinsC (p.Gly345fs)	rs2136313349
NM_014319.5(LEMD3):c.1035dup (p.Cys346fs)	rs2136313349
NM_014319.5(LEMD3):c.1700del (p.Asp566_Leu567insTer)	rs1870837900
NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter)	rs1565799131
NM_014319.5(LEMD3):c.2024-2A>G	rs2136354786
NM_014319.5(LEMD3):c.2154dup (p.Ala719fs)	rs2136355335
NM_014319.5(LEMD3):c.2564G>A (p.Trp855Ter)	rs267607216
NM_014319.5(LEMD3):c.906del (p.Gly303fs)	rs2136313188

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