ClinVar Miner

List of variants in gene UNC80 reported as pathogenic by Yale Center for Mendelian Genomics, Yale University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.520C>T (p.Arg174Ter) rs751913925 0.00001
NM_001371986.1(UNC80):c.2399del (p.Leu800fs) rs1135401813
NM_001371986.1(UNC80):c.4144G>T (p.Glu1382Ter) rs981874506
NM_001371986.1(UNC80):c.5869C>T (p.Arg1957Ter) rs1262654975
NM_001371986.1(UNC80):c.601-1G>A rs1574434743
NM_001371986.1(UNC80):c.8256+2T>G rs1575179679
NM_001371986.1(UNC80):c.8314C>T (p.Arg2772Ter) rs1575183610

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