ClinVar Miner

List of variants in gene DYNC1H1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961 0.00015
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990 0.00010
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281 0.00002
NM_001376.5(DYNC1H1):c.4075-5G>A rs750127672 0.00002
NM_001376.5(DYNC1H1):c.13509G>T (p.Glu4503Asp) rs1304570979 0.00001
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly) rs773630385
NM_001376.5(DYNC1H1):c.5589T>C (p.Asn1863=) rs1567008458
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043

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