ClinVar Miner

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

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_152281.3(GORAB):c.657C>T (p.Tyr219=) rs76365864 0.00986
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_030777.4(SLC2A10):c.1548-18G>A rs113496485 0.00749
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438

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