List of variants reported as not provided for cutis laxa, autosomal recessive, type 1A

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)	rs601314	0.89787
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	rs144288844	0.00019
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	rs80338765	0.00012
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln)	rs61893867	0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	rs193302867	0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	rs193302864	0.00001
NG_008254.1:g.48570_71295dup22726
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr)	rs1802492
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)	rs80338767
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)	rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)	rs28939370
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)	rs193302865
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)	rs193302868
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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