List of variants in gene EFEMP2 reported by CeGaT Center for Human Genetics Tuebingen

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: 11

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HGVS	dbSNP	gnomAD frequency
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.977G>A (p.Arg326His)	rs141868759	0.00019
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)	rs746343857	0.00006
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)	rs546162289	0.00006
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	rs193302867	0.00001
NM_016938.5(EFEMP2):c.52C>T (p.Leu18=)	rs1357613836	0.00001
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu)	rs376350227
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn)	rs766172211
NM_016938.5(EFEMP2):c.636A>T (p.Pro212=)

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