List of variants in gene YY1 reported as pathogenic for Gabriele de Vries syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003403.5(YY1):c.1030C>T (p.Gln344Ter)	rs1131692045
NM_003403.5(YY1):c.1062+1G>A	rs2139604254
NM_003403.5(YY1):c.1096C>G (p.Leu366Val)	rs1131692044
NM_003403.5(YY1):c.1097T>C (p.Leu366Pro)	rs1131692163
NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr)	rs1131692043
NM_003403.5(YY1):c.458_476del (p.Val153fs)
NM_003403.5(YY1):c.690del (p.Asp231fs)	rs759536629

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