ClinVar Miner

List of variants in gene ABCA3 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934

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