ClinVar Miner

List of variants in gene DYNC1H1 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853 0.00011
NM_001376.5(DYNC1H1):c.10197+3G>A rs2048529897
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly) rs2048546542
NM_001376.5(DYNC1H1):c.11263G>A (p.Glu3755Lys) rs2048611326
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met) rs750249796
NM_001376.5(DYNC1H1):c.12368G>A (p.Arg4123Gln) rs2048664099
NM_001376.5(DYNC1H1):c.13047GGA[1] (p.Glu4350del) rs1555412533
NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala) rs1555412625
NM_001376.5(DYNC1H1):c.2538+8C>G rs755060365
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=) rs1566996726
NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile) rs1555411304

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