ClinVar Miner

List of variants in gene DIABLO 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_001371333.1(DIABLO):c.315+6T>A rs370571609 0.00046
NM_001371333.1(DIABLO):c.316-8A>G rs137928955 0.00045
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val) rs199898020 0.00016
NM_001371333.1(DIABLO):c.175A>G (p.Ile59Val) rs574777883 0.00009
NM_001371333.1(DIABLO):c.349T>C (p.Tyr117His) rs764412748 0.00001
NM_001371333.1(DIABLO):c.291T>G (p.Ile97Met) rs876657775

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