ClinVar Miner

List of variants in gene DYNC2H1 reported by Gharavi Laboratory, Columbia University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.11851_11852delinsAA (p.Ser3951Lys) rs1565493307
NM_001377.3(DYNC2H1):c.1377del (p.Phe459fs) rs1565315923
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.8243_8244insCTAATTCTTA (p.Leu2748_Leu2749insTer) rs1565393163
NM_001377.3(DYNC2H1):c.8410C>T (p.Gln2804Ter) rs1565394197
NM_001377.3(DYNC2H1):c.8816T>G (p.Ile2939Ser) rs1199516337

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