ClinVar Miner

List of variants in gene VPS13A reported as benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_033305.3(VPS13A):c.1596-8dup rs748907586
NM_033305.3(VPS13A):c.9189+2545TGA[10] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[12] rs113052866
NM_033305.3(VPS13A):c.989+28dup rs751974264

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