ClinVar Miner

List of variants reported as pathogenic for Meckel-Gruber syndrome by Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)	rs2109029867
NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs)	rs2109077865

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