ClinVar Miner

List of variants studied for congenital entropion by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) rs1180294322 0.00001
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) rs1859949436
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229

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