ClinVar Miner

List of variants reported as pathogenic for Branchiootic syndrome 1 by Precision Medicine Center, Zhengzhou University

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1050+1G>T rs1816289467
NM_000503.6(EYA1):c.1140+1G>A rs1812855196
NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter)
NM_000503.6(EYA1):c.1425del (p.Asp476fs) rs2128850973
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667

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