ClinVar Miner

List of variants in gene DYNC1H1, LOC126862060 studied for Charcot-Marie-Tooth disease

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=) rs372493817 0.00004
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) rs371538443 0.00002
NM_001376.5(DYNC1H1):c.9048+16G>A rs1287980587
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_001376.5(DYNC1H1):c.9468+9A>G rs750452823

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