ClinVar Miner

List of variants reported as likely benign for congenital entropion by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00044
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_152281.3(GORAB):c.156G>T (p.Gly52=) rs190850168 0.00001
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)

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