ClinVar Miner

List of variants in gene VPS13A reported by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn) rs769409983 0.00002
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) rs1417246536
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=) rs1829532281
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) rs1830740171

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