ClinVar Miner

List of variants in gene BLOC1S3 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) rs571269735 0.01592
NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=) rs546645333 0.00713
NM_212550.5(BLOC1S3):c.491G>A (p.Arg164His) rs200567085 0.00134
NM_212550.5(BLOC1S3):c.-7C>G rs200767686 0.00078
NM_212550.5(BLOC1S3):c.600G>A (p.Pro200=) rs145239205 0.00030
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser) rs200799185

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