ClinVar Miner

List of variants studied for Hirschsprung disease, susceptibility to, 1 by U955 Equipe 11, INSERM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000022.11:g.38016774G>C rs533778281 0.00095
NC_000022.11:g.38016208G>A rs606231342 0.00001
NM_001301131.1(POLR2F):c.294-27388_*10734del

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