List of variants reported as benign for Interstitial lung disease due to ABCA3 deficiency by Illumina Laboratory Services, Illumina

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=)	rs323043	0.14339
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=)	rs13332514	0.11601
NM_001089.2(ABCA3):c.-711C>G	rs45583636	0.10530
NM_001089.3(ABCA3):c.-561C>A	rs45456893	0.10465
NM_001089.3(ABCA3):c.-494C>T	rs4146825	0.08190
NM_001089.3(ABCA3):c.-169G>A	rs323049	0.08133
NM_001089.3(ABCA3):c.450G>A (p.Val150=)	rs74002800	0.03711
NM_001089.3(ABCA3):c.2514-8C>T	rs45502600	0.02214
NM_001089.3(ABCA3):c.447+11C>T	rs117031141	0.01978
NM_001089.3(ABCA3):c.-539+9C>A	rs45501400	0.01933
NM_001089.3(ABCA3):c.-29C>G	rs17135880	0.01730
NM_001089.3(ABCA3):c.-27+10T>A	rs28517480	0.01729
NM_001089.3(ABCA3):c.-671T>A	rs45451291	0.01662
NM_001089.3(ABCA3):c.681C>T (p.Ala227=)	rs45480502	0.01639
NM_001089.3(ABCA3):c.448-14C>G	rs62040683	0.01376
NM_001089.3(ABCA3):c.990+14C>T	rs185179294	0.00913
NM_001089.3(ABCA3):c.4165-8G>A	rs138769732	0.00766
NM_001089.3(ABCA3):c.1869C>T (p.Val623=)	rs145502164	0.00403
NM_001089.3(ABCA3):c.614-9C>T	rs45459699	0.00387
NM_001089.3(ABCA3):c.-254C>T	rs45442195	0.00378
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp)	rs146709251	0.00308
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val)	rs145251229	0.00026
NM_001089.3(ABCA3):c.*312G>T	rs79337915	0.00006
NM_001089.3(ABCA3):c.-236C>G	rs323048

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