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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)	rs117603931	0.00662
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys)	rs139954112	0.00217
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser)	rs142977595	0.00084
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)	rs145087575	0.00029
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=)	rs374605569	0.00009
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=)	rs369494610	0.00009
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=)	rs727502872	0.00004
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=)	rs138901284

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