ClinVar Miner

List of variants in gene DYNC2H1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128 0.00193
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_001377.3(DYNC2H1):c.4812C>T (p.Ile1604=) rs370677208 0.00091
NM_001377.3(DYNC2H1):c.6159C>T (p.Ile2053=) rs373665655 0.00091
NM_001377.3(DYNC2H1):c.5439G>A (p.Arg1813=) rs371039240 0.00090
NM_001377.3(DYNC2H1):c.3384C>A (p.Ala1128=) rs199935024 0.00089
NM_001377.3(DYNC2H1):c.5559-6T>C rs369043863 0.00089
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359 0.00055
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558 0.00013
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350 0.00011
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700 0.00009
NM_001377.3(DYNC2H1):c.12578G>A (p.Arg4193His) rs201699865 0.00005
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830 0.00004
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=) rs553516014 0.00003
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.10651T>C (p.Leu3551=)
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)
NM_001377.3(DYNC2H1):c.11539T>G (p.Trp3847Gly)
NM_001377.3(DYNC2H1):c.1236C>T (p.Asp412=)
NM_001377.3(DYNC2H1):c.12789G>A (p.Pro4263=)
NM_001377.3(DYNC2H1):c.2346-5T>G rs752317640
NM_001377.3(DYNC2H1):c.2509T>C (p.Leu837=)
NM_001377.3(DYNC2H1):c.2940G>T (p.Lys980Asn)
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.7085A>G (p.Asn2362Ser) rs1862122773
NM_001377.3(DYNC2H1):c.9279G>A (p.Val3093=)

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