List of variants in gene EFEMP2 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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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.277G>A (p.Gly93Ser)	rs2234462	0.00344
NM_016938.5(EFEMP2):c.368-4G>A	rs111550973	0.00223
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)	rs144320036	0.00104
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)	rs144817331	0.00057
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)	rs142509316	0.00016
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)	rs377646143	0.00011

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