ClinVar Miner

List of variants in gene DYNC1H1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.10213A>C (p.Met3405Leu) rs2048531389
NM_001376.5(DYNC1H1):c.10263_10274del (p.Asp3422_Asp3425del)
NM_001376.5(DYNC1H1):c.1741A>T (p.Met581Leu) rs1566999047
NM_001376.5(DYNC1H1):c.1998A>T (p.Glu666Asp) rs1595600991
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr) rs2048038458
NM_001376.5(DYNC1H1):c.3280G>T (p.Asp1094Tyr) rs2048039273
NM_001376.5(DYNC1H1):c.6880G>A (p.Glu2294Lys) rs2152579365
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918

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