ClinVar Miner

List of variants in gene MPZL2 reported as pathogenic by Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_005797.4(MPZL2):c.463del (p.Ala155fs) rs759432278
NM_005797.4(MPZL2):c.[220C>T];[463del]

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