ClinVar Miner

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

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
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.1792C>T (p.Arg598Cys) rs587780564
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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