ClinVar Miner

List of variants in gene DYNC1H1 reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys) rs1047509819
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp) rs1595597572
NM_001376.5(DYNC1H1):c.5902C>T (p.Leu1968Phe)
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr) rs1555409836
NM_001376.5(DYNC1H1):c.7994A>G (p.Glu2665Gly)

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