ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.-182C>T rs45518738 0.00580
NM_001089.3(ABCA3):c.-331C>G rs45498101 0.00484
NM_001089.3(ABCA3):c.-67C>T rs45487892 0.00338
NM_001089.3(ABCA3):c.-120C>T rs370407638 0.00224
NM_001089.3(ABCA3):c.-368G>A rs189133667 0.00180
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355 0.00120
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) rs147341939 0.00092
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00088
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=) rs146956803 0.00066
NM_001089.3(ABCA3):c.873+10C>T rs139685797 0.00020
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val) rs150910102 0.00017
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=) rs572101154 0.00004
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile) rs570927625 0.00001

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