ClinVar Miner

List of variants in gene ABCA3 reported as uncertain significance by GeneDx

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
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.3784A>G (p.Ser1262Gly) rs35089233 0.00117
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.385G>A (p.Val129Met) rs137924161 0.00061
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu) rs200835546 0.00029
NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln) rs201226715 0.00010
NM_001089.3(ABCA3):c.1600C>T (p.His534Tyr) rs137950456 0.00009
NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr) rs367680713 0.00008
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn) rs201955122 0.00006
NM_001089.3(ABCA3):c.-2C>T rs760334694 0.00003
NM_001089.3(ABCA3):c.1645G>A (p.Val549Ile) rs369048340 0.00003
NM_001089.3(ABCA3):c.5098G>A (p.Ala1700Thr) rs745625493 0.00003
NM_001089.3(ABCA3):c.4067C>T (p.Pro1356Leu) rs2093655087 0.00001
NM_001089.3(ABCA3):c.4271C>T (p.Thr1424Met) rs369872536 0.00001
NM_001089.3(ABCA3):c.1000A>C (p.Asn334His)
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
NM_001089.3(ABCA3):c.1325A>G (p.Asn442Ser)
NM_001089.3(ABCA3):c.1363A>G (p.Met455Val) rs576740017
NM_001089.3(ABCA3):c.161C>T (p.Ala54Val) rs759790104
NM_001089.3(ABCA3):c.1988G>A (p.Arg663His)
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His) rs759555069
NM_001089.3(ABCA3):c.292C>T (p.Arg98Cys)
NM_001089.3(ABCA3):c.3721C>A (p.Leu1241Ile)
NM_001089.3(ABCA3):c.3914G>A (p.Arg1305Gln)
NM_001089.3(ABCA3):c.4582G>A (p.Ala1528Thr)

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