ClinVar Miner

List of variants in gene ABCA2 reported as benign for not provided

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001606.5(ABCA2):c.2037T>C (p.Asp679=) rs908832 0.96347
NM_001606.5(ABCA2):c.7275+156T>C rs4880185 0.96292
NM_001606.5(ABCA2):c.3105-22A>G rs6560657 0.96281
NM_001606.5(ABCA2):c.4447+19A>G rs10781531 0.94915
NM_001606.5(ABCA2):c.7275+71G>C rs4880187 0.92493
NM_001606.5(ABCA2):c.5360+41A>G rs2271863 0.69478
NM_001606.5(ABCA2):c.6690T>C (p.Leu2230=) rs7048567 0.69322
NM_001606.5(ABCA2):c.4448-124T>C rs10870162 0.68313
NM_001606.5(ABCA2):c.5472C>T (p.His1824=) rs2271862 0.66417
NM_001606.5(ABCA2):c.2212-34C>T rs879854 0.61347
NM_001606.5(ABCA2):c.3075C>T (p.Gly1025=) rs73564312 0.01500
NM_001606.5(ABCA2):c.1263C>T (p.Asn421=) rs73564322 0.01492
NM_001606.5(ABCA2):c.3552G>A (p.Glu1184=) rs35031434 0.01432
NM_001606.5(ABCA2):c.5430C>T (p.Phe1810=) rs79966110 0.00918
NM_001606.5(ABCA2):c.4267G>T (p.Val1423Phe) rs147917446 0.00889
NM_001606.5(ABCA2):c.3939G>A (p.Thr1313=) rs148980220 0.00515
NM_001606.5(ABCA2):c.4003+7G>A rs200425176 0.00498
NM_001606.5(ABCA2):c.2553+10G>A rs75887354 0.00386
NM_001606.5(ABCA2):c.1091C>T (p.Ala364Val) rs188491052 0.00297
NM_001606.5(ABCA2):c.1265+10C>T rs113949396 0.00245
NM_001606.5(ABCA2):c.1195C>T (p.Leu399=) rs111804913 0.00242
NM_001606.5(ABCA2):c.3645C>T (p.Asp1215=) rs189266662 0.00220
NM_001606.5(ABCA2):c.1953C>T (p.Gly651=) rs200143545 0.00096
NM_001606.5(ABCA2):c.3750C>T (p.Ser1250=) rs369406377 0.00009
NM_001606.5(ABCA2):c.*167T>C rs10870161
NM_001606.5(ABCA2):c.3678C>T (p.Ala1226=)
NM_001606.5(ABCA2):c.4550+71A>G rs4880188
NM_001606.5(ABCA2):c.568-19_568-18insCCCCATCTGAGCCACAC rs56366523
NM_001606.5(ABCA2):c.6931-7C>T rs79419594
NM_001606.5(ABCA2):c.7275+82C>G rs4880186

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