ClinVar Miner

List of variants reported as uncertain significance for eyelid disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970 0.00004
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly) rs199599532 0.00003
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) rs143662598 0.00002
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser) rs377199919 0.00001
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) rs936904481
NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) rs151324893

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