ClinVar Miner

List of variants in gene DYNC2H1 reported as pathogenic by OMIM

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Total variants: 20
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HGVS dbSNP
NM_001080463.1(DYNC2H1):c.626_654dup (p.Glu219Phefs) rs1565310938
NM_001080463.2(DYNC2H1):c.11747G>A (p.Gly3916Asp) rs201479015
NM_001080463.2(DYNC2H1):c.7486C>T (p.Pro2496Ser) rs397514636
NM_001377.3(DYNC2H1):c.10042G>T (p.Gly3348Ter) rs137853029
NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs) rs431905500
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028
NM_001377.3(DYNC2H1):c.4610A>G (p.Gln1537Arg) rs137853033
NM_001377.3(DYNC2H1):c.5151+1G>T rs431905499
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.7382G>T (p.Gly2461Val) rs137853034
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032
NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) rs431905507
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637

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