ClinVar Miner

List of variants in gene DYNC1H1 reported by Diagnostic Laboratory, Strasbourg University Hospital

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10684T>A (p.Trp3562Arg) rs2048546391
NM_001376.5(DYNC1H1):c.11309T>C (p.Leu3770Pro) rs2048611654
NM_001376.5(DYNC1H1):c.11870T>C (p.Phe3957Ser) rs2048637475
NM_001376.5(DYNC1H1):c.599T>C (p.Ile200Thr) rs2047842129
NM_001376.5(DYNC1H1):c.6074G>A (p.Arg2025Gln) rs2152577516
NM_001376.5(DYNC1H1):c.6151dup (p.Gln2051fs) rs2048240046
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His) rs1236304133
NM_001376.5(DYNC1H1):c.8684_8687del (p.Ala2895fs) rs2048454562

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