ClinVar Miner

List of variants in gene ABCG5 reported as likely benign for Sitosterolemia

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) rs72542427 0.00142
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00106
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) rs149907931 0.00046
NM_022436.3(ABCG5):c.265+10G>A rs140341571 0.00029
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) rs1212418813 0.00010
NM_022436.3(ABCG5):c.143+9G>C rs1377714293 0.00004
NM_022436.3(ABCG5):c.403-8T>C rs776050632 0.00004
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) rs141386201 0.00003
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) rs756339433 0.00002
NM_022436.3(ABCG5):c.265+13A>G rs911042257 0.00001
NM_022436.3(ABCG5):c.33G>T (p.Gly11=) rs200471843 0.00001
NM_022436.3(ABCG5):c.342T>C (p.Tyr114=) rs1391862638 0.00001
NM_022436.3(ABCG5):c.411C>T (p.Thr137=) rs1454183075 0.00001
NM_022436.3(ABCG5):c.-118A>C rs55853083
NM_022436.3(ABCG5):c.126T>C (p.His42=)
NM_022436.3(ABCG5):c.138C>T (p.Ser46=)
NM_022436.3(ABCG5):c.143+13C>A
NM_022436.3(ABCG5):c.143+7C>T rs746799324
NM_022436.3(ABCG5):c.144-17T>G
NM_022436.3(ABCG5):c.153G>A (p.Val51=)
NM_022436.3(ABCG5):c.177T>C (p.Ser59=) rs1390030417
NM_022436.3(ABCG5):c.195C>G (p.Thr65=)
NM_022436.3(ABCG5):c.207C>T (p.Leu69=)
NM_022436.3(ABCG5):c.225C>T (p.Tyr75=)
NM_022436.3(ABCG5):c.237G>A (p.Gly79=)
NM_022436.3(ABCG5):c.265+16A>T
NM_022436.3(ABCG5):c.265+7T>A
NM_022436.3(ABCG5):c.266-13T>G
NM_022436.3(ABCG5):c.266-5C>G
NM_022436.3(ABCG5):c.266-9G>T
NM_022436.3(ABCG5):c.273G>A (p.Gly91=)
NM_022436.3(ABCG5):c.336G>A (p.Glu112=)
NM_022436.3(ABCG5):c.357G>A (p.Ala119=)
NM_022436.3(ABCG5):c.366G>C (p.Arg122=)
NM_022436.3(ABCG5):c.384C>T (p.Cys128=)
NM_022436.3(ABCG5):c.402+13C>T
NM_022436.3(ABCG5):c.402+18A>T
NM_022436.3(ABCG5):c.402+19C>A rs2104864932
NM_022436.3(ABCG5):c.402+20C>A
NM_022436.3(ABCG5):c.402+6CG[3]
NM_022436.3(ABCG5):c.403-13G>A
NM_022436.3(ABCG5):c.405C>T (p.Ser135=)
NM_022436.3(ABCG5):c.429C>T (p.Thr143=) rs1667964581
NM_022436.3(ABCG5):c.453C>A (p.Thr151=)
NM_022436.3(ABCG5):c.459G>A (p.Leu153=)
NM_022436.3(ABCG5):c.45C>G (p.Leu15=) rs932531973
NM_022436.3(ABCG5):c.501+11C>T rs530079060
NM_022436.3(ABCG5):c.501+14C>G
NM_022436.3(ABCG5):c.501+16C>T
NM_022436.3(ABCG5):c.75G>A (p.Leu25=)

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