ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001089.3(ABCA3):c.-120C>T rs370407638
NM_001089.3(ABCA3):c.-182C>T rs45518738
NM_001089.3(ABCA3):c.-331C>G rs45498101
NM_001089.3(ABCA3):c.-368G>A rs189133667
NM_001089.3(ABCA3):c.-67C>T rs45487892
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile)
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=)
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val)
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) rs147341939
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=)
NM_001089.3(ABCA3):c.873+10C>T rs139685797

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