ClinVar Miner

List of variants studied for Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.1060-27C>T rs2592591 0.88085
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_001374353.1(GLI2):c.643+35T>C rs12617878 0.77226
NM_001374353.1(GLI2):c.643+24G>A rs12614482 0.77219
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_001374353.1(GLI2):c.2242+35A>G rs2276553 0.62175
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_001374353.1(GLI2):c.643+16C>G rs6718382

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