List of variants in gene EFEMP2 reported as likely pathogenic 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)	rs141310608	0.00006
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	rs193302867	0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	rs193302864	0.00001
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.109_111+3del	rs1859976995
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs)	rs1555042727
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)
NM_016938.5(EFEMP2):c.368-2A>G
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)	rs761656636
NM_016938.5(EFEMP2):c.608-1G>C	rs888015688
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	rs119489102
NM_016938.5(EFEMP2):c.848-1_850del

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