ClinVar Miner

List of variants in gene DYNC1H1 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10033G>A (p.Glu3345Lys) rs797044928
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918

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