ClinVar Miner

List of variants in gene YY1AP1 reported as pathogenic for Grange syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter) rs1057519599 0.00001
NM_139119.3(YY1AP1):c.412-1G>A rs199653824 0.00001
NM_139119.3(YY1AP1):c.1489_1492del (p.Glu498fs) rs759089960
NM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter) rs1057519597
NM_139119.3(YY1AP1):c.1987G>T (p.Glu663Ter) rs1057519598
NM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter) rs749232831
NM_139119.3(YY1AP1):c.583+23T>G rs1558307853

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