ClinVar Miner

List of variants studied for eyelid disorder by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_023067.4(FOXL2):c.223C>T (p.Leu75Phe)

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