List of variants reported as benign for Cutis laxa, autosomal recessive, type 1B by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6

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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.-58G>A	rs2303384	0.61477
NM_016938.5(EFEMP2):c.-113C>T	rs188624478	0.02060
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.1188C>T (p.Ser396=)	rs2234473	0.00178

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