ClinVar Miner

List of variants in gene DYNC2H1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626 0.19492
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674 0.16562
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) rs1223863177 0.00002
NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter) rs1322871899 0.00001
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.11231A>T (p.Glu3744Val) rs1867124708
NM_001377.3(DYNC2H1):c.3459-1G>A rs1860730801
NM_001377.3(DYNC2H1):c.872G>T (p.Cys291Phe) rs770790055

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