ClinVar Miner

List of variants studied for congenital entropion by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) rs1599879104
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797

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