List of variants in gene EFEMP2 reported as benign by Invitae

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)	rs601314	0.89787
NM_016938.5(EFEMP2):c.490+23G>C	rs630394	0.59356
NM_016938.5(EFEMP2):c.276C>T (p.His92=)	rs633800	0.39212
NM_016938.5(EFEMP2):c.161-10C>T	rs2234461	0.00387
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)	rs2234457	0.00375
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)	rs2234462	0.00344
NM_016938.5(EFEMP2):c.368-18G>A	rs80047413	0.00337
NM_016938.5(EFEMP2):c.368-11G>A	rs181514768	0.00272
NM_016938.5(EFEMP2):c.368-4G>A	rs111550973	0.00223
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)	rs61740381	0.00098
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)	rs144780990	0.00092
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=)	rs2234467	0.00060
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)	rs141868759	0.00019
NM_016938.5(EFEMP2):c.848-16C>T	rs773386551	0.00008
NM_016938.5(EFEMP2):c.367+10del

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