ClinVar Miner

List of variants in gene DYNC2H1 reported as likely pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys)

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