ClinVar Miner

List of variants in gene DYNC1H1 reported by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377 0.00006
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=) rs1407178236 0.00001
NM_001376.5(DYNC1H1):c.12514-5A>G rs774476953 0.00001
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala) rs1001125376 0.00001
NM_001376.5(DYNC1H1):c.1544C>T (p.Ala515Val) rs1566998962
NM_001376.5(DYNC1H1):c.1817C>T (p.Thr606Ile) rs1566999079
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr) rs2048038458
NM_001376.5(DYNC1H1):c.4074G>A (p.Lys1358=) rs2048116032
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr) rs1555409418
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter) rs2048322542
NM_001376.5(DYNC1H1):c.7747A>G (p.Thr2583Ala) rs2048329952
NM_001376.5(DYNC1H1):c.7779G>C (p.Leu2593Phe) rs2048330336

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