List of variants in gene EFEMP2 reported as pathogenic for cutis laxa

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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: 20

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HGVS	dbSNP	gnomAD frequency
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)	rs1306393544	0.00022
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	rs193302867	0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)	rs763944898	0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	rs193302864	0.00001
NC_000011.10:g.(?_65871960)_(65872944_?)del
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.290dup (p.Pro98fs)
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)	rs193302869
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)	rs1859949436
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)	rs761656636
NM_016938.5(EFEMP2):c.577del (p.Gln193fs)	rs193302870
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)	rs397514683
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)	rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	rs119489102
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)	rs1044449024
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs)	rs2134747667

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