ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_001089.2(ABCA3):c.-711C>G rs45583636
NM_001089.3(ABCA3):c.*312G>T rs79337915
NM_001089.3(ABCA3):c.-169G>A rs323049
NM_001089.3(ABCA3):c.-236C>G rs323048
NM_001089.3(ABCA3):c.-254C>T rs45442195
NM_001089.3(ABCA3):c.-27+10T>A rs28517480
NM_001089.3(ABCA3):c.-29C>G rs17135880
NM_001089.3(ABCA3):c.-494C>T rs4146825
NM_001089.3(ABCA3):c.-539+9C>A rs45501400
NM_001089.3(ABCA3):c.-561C>A rs45456893
NM_001089.3(ABCA3):c.-671T>A rs45451291
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164
NM_001089.3(ABCA3):c.2514-8C>T rs45502600
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229
NM_001089.3(ABCA3):c.4165-8G>A rs138769732
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.447+11C>T rs117031141
NM_001089.3(ABCA3):c.448-14C>G rs62040683
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800
NM_001089.3(ABCA3):c.614-9C>T rs45459699
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502
NM_001089.3(ABCA3):c.990+14C>T rs185179294

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