ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) rs35089233 0.00117
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00106
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala) rs150175668 0.00080
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907 0.00075
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) rs142687030 0.00071
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly) rs151078160 0.00063
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376 0.00053
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964 0.00009
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) rs145483014 0.00008
NM_001089.3(ABCA3):c.2415-4T>G rs201775187 0.00006
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1611+6G>A

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