ClinVar Miner

List of variants in gene combination LOC113788277, PLPBP reported as uncertain significance by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_007198.4(PLPBP):c.19A>C (p.Met7Leu) rs764612461 0.00001
NM_007198.4(PLPBP):c.19A>G (p.Met7Val) rs764612461

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