ClinVar Miner

List of variants in gene ABCA3 reported as uncertain significance by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
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.2340C>T (p.His780=) rs45620539 0.00160
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp) rs148662935 0.00083
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00026
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His) rs145269995 0.00016
NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val) rs146651498 0.00013
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) rs549977217 0.00011
NM_001089.3(ABCA3):c.4214C>T (p.Ala1405Val) rs149559041 0.00010
NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=) rs373682740 0.00009
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn) rs201955122 0.00006
NM_001089.3(ABCA3):c.1313T>C (p.Leu438Pro) rs761336277 0.00001
NM_001089.3(ABCA3):c.2411A>G (p.His804Arg) rs747443485 0.00001
NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His) rs557707047 0.00001
NM_001089.3(ABCA3):c.1127C>T (p.Ala376Val) rs1463365045
NM_001089.3(ABCA3):c.1595T>C (p.Ile532Thr) rs2093686483
NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) rs397518427
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His) rs759555069
NM_001089.3(ABCA3):c.2341G>A (p.Val781Met) rs771821923
NM_001089.3(ABCA3):c.2354C>A (p.Thr785Lys) rs371756212
NM_001089.3(ABCA3):c.2534G>A (p.Ser845Asn) rs2093668695
NM_001089.3(ABCA3):c.3052G>A (p.Gly1018Ser)
NM_001089.3(ABCA3):c.686C>T (p.Ala229Val)

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