List of variants in gene EFEMP2 studied for cutis laxa, autosomal recessive, type 1A

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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.376G>A (p.Glu126Lys)	rs193302867	0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	rs193302864	0.00001
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)	rs193302865
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)	rs119489101
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)	rs193302869
NM_016938.5(EFEMP2):c.577del (p.Gln193fs)	rs193302870
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)	rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	rs119489102

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