ClinVar Miner

List of variants in gene ABCA3 reported as uncertain significance by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.1232C>A (p.Ser411Tyr) rs993041034
NM_001089.3(ABCA3):c.2041G>A (p.Ala681Thr) rs753751884
NM_001089.3(ABCA3):c.2815C>A (p.Leu939Met) rs1555487703
NM_001089.3(ABCA3):c.2965G>A (p.Ala989Thr) rs753800479
NM_001089.3(ABCA3):c.3311T>G (p.Leu1104Arg) rs1555487524
NM_001089.3(ABCA3):c.3928A>G (p.Met1310Val) rs2141692858

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