ClinVar Miner

List of variants in gene DYNC1H1 reported as uncertain significance by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10175T>C (p.Met3392Thr) rs2048529643
NM_001376.5(DYNC1H1):c.10237C>T (p.Arg3413Cys)
NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile) rs2048613478
NM_001376.5(DYNC1H1):c.11690+5G>A rs1336913296
NM_001376.5(DYNC1H1):c.11702A>G (p.Tyr3901Cys) rs2048630862
NM_001376.5(DYNC1H1):c.1352G>A (p.Arg451His)
NM_001376.5(DYNC1H1):c.2476T>C (p.Ser826Pro) rs2141275205
NM_001376.5(DYNC1H1):c.3053T>C (p.Phe1018Ser) rs1318726169
NM_001376.5(DYNC1H1):c.3680G>A (p.Arg1227Gln) rs2048071941
NM_001376.5(DYNC1H1):c.4781T>G (p.Ile1594Ser) rs1233593354
NM_001376.5(DYNC1H1):c.6071G>A (p.Gly2024Asp)
NM_001376.5(DYNC1H1):c.6136C>T (p.Arg2046Trp) rs1400178483
NM_001376.5(DYNC1H1):c.6467T>G (p.Leu2156Arg) rs2048250430
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu) rs866647743
NM_001376.5:c.(4883+1_4884-1)_(8177+1_8178-1)del

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