ClinVar Miner

List of variants in gene DYNC1H1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994 0.00005
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr) rs145366078 0.00003
NM_001376.5(DYNC1H1):c.407G>A (p.Arg136Gln) rs996476189 0.00002
NM_001376.5(DYNC1H1):c.13408C>T (p.Pro4470Ser) rs150906249 0.00001
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110 0.00001
NM_001376.5(DYNC1H1):c.10078A>G (p.Ser3360Gly)
NM_001376.5(DYNC1H1):c.11894C>T (p.Ser3965Phe) rs1595630803
NM_001376.5(DYNC1H1):c.1626C>T (p.Gly542=) rs1566998995
NM_001376.5(DYNC1H1):c.5049+8T>C rs2141288581
NM_001376.5(DYNC1H1):c.6847G>A (p.Val2283Met) rs374569905
NM_001376.5(DYNC1H1):c.7409C>T (p.Ala2470Val) rs774419538
NM_001376.5(DYNC1H1):c.8055+6T>A rs766505305

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