ClinVar Miner

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

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001606.5(ABCA2):c.1320G>A (p.Thr440=) rs56164699 0.00522
NM_001606.5(ABCA2):c.5134G>A (p.Gly1712Ser) rs149871834 0.00323
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.1071C>T (p.Pro357=) rs199700897 0.00205
NM_001606.5(ABCA2):c.6340G>A (p.Val2114Ile) rs150403388 0.00175
NM_001606.5(ABCA2):c.725C>T (p.Pro242Leu) rs199537832 0.00061
NM_001606.5(ABCA2):c.2598C>T (p.Phe866=) rs200448796 0.00056
NM_001606.5(ABCA2):c.4128G>A (p.Ala1376=) rs201737470 0.00041
NM_001606.5(ABCA2):c.3213G>A (p.Pro1071=) rs371299457 0.00020
NM_001606.5(ABCA2):c.3984G>A (p.Ser1328=) rs760848419 0.00018
NM_001606.5(ABCA2):c.6309C>T (p.Gly2103=) rs778465935 0.00016
NM_001606.5(ABCA2):c.3399C>T (p.Ser1133=) rs377553370 0.00014
NM_001606.5(ABCA2):c.4683C>T (p.Ser1561=) rs369858228 0.00009
NM_001606.5(ABCA2):c.282G>A (p.Thr94=) rs769337769 0.00006
NM_001606.5(ABCA2):c.470G>C (p.Arg157Thr) rs201942449 0.00003
NM_001606.5(ABCA2):c.2538C>T (p.Phe846=) rs754275293 0.00002
NM_001606.5(ABCA2):c.2586C>T (p.Gly862=) rs1278330541 0.00001
NM_001606.5(ABCA2):c.2602C>T (p.Leu868=) rs1159833284 0.00001
NM_001606.5(ABCA2):c.3660G>A (p.Thr1220=) rs764350245 0.00001
NM_001606.5(ABCA2):c.1122G>T (p.Gly374=)
NM_001606.5(ABCA2):c.1173A>T (p.Ala391=)
NM_001606.5(ABCA2):c.1188G>A (p.Pro396=)
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys) rs143473036
NM_001606.5(ABCA2):c.1233C>T (p.Ala411=) rs373851416
NM_001606.5(ABCA2):c.1412G>A (p.Arg471His)
NM_001606.5(ABCA2):c.1555-8A>G
NM_001606.5(ABCA2):c.1728C>T (p.Ser576=)
NM_001606.5(ABCA2):c.1863C>T (p.His621=)
NM_001606.5(ABCA2):c.1866G>A (p.Val622=)
NM_001606.5(ABCA2):c.1941G>A (p.Gly647=)
NM_001606.5(ABCA2):c.2181C>T (p.Ile727=)
NM_001606.5(ABCA2):c.2214G>A (p.Val738=)
NM_001606.5(ABCA2):c.2307C>T (p.Thr769=)
NM_001606.5(ABCA2):c.2382G>A (p.Ala794=)
NM_001606.5(ABCA2):c.2559C>T (p.Leu853=)
NM_001606.5(ABCA2):c.2568G>A (p.Thr856=)
NM_001606.5(ABCA2):c.2601G>T (p.Ala867=) rs747553479
NM_001606.5(ABCA2):c.275+8C>T
NM_001606.5(ABCA2):c.2923+3G>A
NM_001606.5(ABCA2):c.3168C>T (p.Ile1056=)
NM_001606.5(ABCA2):c.3369A>G (p.Thr1123=)
NM_001606.5(ABCA2):c.3453G>A (p.Thr1151=)
NM_001606.5(ABCA2):c.4056T>C (p.Ser1352=)
NM_001606.5(ABCA2):c.4173C>T (p.Thr1391=)
NM_001606.5(ABCA2):c.4245G>A (p.Val1415=)
NM_001606.5(ABCA2):c.4293C>T (p.Asp1431=)
NM_001606.5(ABCA2):c.4350C>T (p.Cys1450=)
NM_001606.5(ABCA2):c.4440G>A (p.Pro1480=)
NM_001606.5(ABCA2):c.4521C>T (p.Pro1507=)
NM_001606.5(ABCA2):c.4541G>A (p.Arg1514His)
NM_001606.5(ABCA2):c.4545G>A (p.Glu1515=) rs1564216933
NM_001606.5(ABCA2):c.4689G>A (p.Glu1563=)
NM_001606.5(ABCA2):c.477G>A (p.Pro159=)
NM_001606.5(ABCA2):c.4785G>A (p.Ser1595=)
NM_001606.5(ABCA2):c.4794A>C (p.Pro1598=)
NM_001606.5(ABCA2):c.4840G>A (p.Val1614Ile)
NM_001606.5(ABCA2):c.4950C>T (p.Phe1650=)
NM_001606.5(ABCA2):c.5385C>T (p.Ile1795=)
NM_001606.5(ABCA2):c.5400C>T (p.Ile1800=)
NM_001606.5(ABCA2):c.5604G>C (p.Thr1868=)
NM_001606.5(ABCA2):c.6210C>T (p.Ala2070=)
NM_001606.5(ABCA2):c.6312C>T (p.Asp2104=)
NM_001606.5(ABCA2):c.6321G>A (p.Thr2107=)
NM_001606.5(ABCA2):c.6486C>T (p.Asp2162=)
NM_001606.5(ABCA2):c.6753G>A (p.Ala2251=)
NM_001606.5(ABCA2):c.6828-3del rs545472219
NM_001606.5(ABCA2):c.6852G>C (p.Thr2284=)
NM_001606.5(ABCA2):c.705G>A (p.Leu235=)
NM_001606.5(ABCA2):c.7116G>A (p.Gln2372=)
NM_001606.5(ABCA2):c.7224C>T (p.Pro2408=)
NM_001606.5(ABCA2):c.732G>A (p.Ser244=)
NM_001606.5(ABCA2):c.825G>A (p.Ala275=)
NM_001606.5(ABCA2):c.942G>A (p.Ala314=)

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