ClinVar Miner

List of variants in gene DYNC1H1 reported by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322 0.00019
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963 0.00007
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819 0.00003
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys) rs200149883 0.00001
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile) rs761695197 0.00001
NM_001376.5(DYNC1H1):c.11464C>T (p.His3822Tyr) rs2152595124
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) rs780676515
NM_001376.5(DYNC1H1):c.11851G>T (p.Val3951Phe) rs2152595709
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=) rs1446298826
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr) rs1567026040
NM_001376.5(DYNC1H1):c.13497T>C (p.Gly4499=) rs1555412704
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=) rs1566996726

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