ClinVar Miner

Variants in gene ABCA3 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.2264-17G>A rs45538638 0.02084
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_001089.3(ABCA3):c.-9A>G rs78286222 0.01064
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164 0.00403
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127 0.00184
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00160
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00106
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00088
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1722C>T (p.Thr574=)

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