ClinVar Miner

List of variants in gene EFEMP2 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
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.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.109_111+3del rs1859976995
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) rs1555042727
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)
NM_016938.5(EFEMP2):c.368-2A>G
NM_016938.5(EFEMP2):c.608-1G>C rs888015688
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016938.5(EFEMP2):c.848-1_850del

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