ClinVar Miner

List of variants in gene UNC13D reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_199242.3(UNC13D):c.2340C>G (p.Gly780=) rs556654678
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416

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