ClinVar Miner

List of variants in gene ABCA3 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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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_001089.3(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.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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