ClinVar Miner

List of variants in gene ABCB11 reported by Preventiongenetics, part of Exact Sciences

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2179-17C>A rs853772 0.45482
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_003742.4(ABCB11):c.909-17G>A rs7602204 0.11221
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_003742.4(ABCB11):c.477+16G>A rs11568378 0.05331
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377 0.05330
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359 0.02682
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373 0.02633
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552 0.01590
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616 0.01137
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675 0.01118
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_003742.4(ABCB11):c.2610+18A>C rs11568374 0.00065
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003742.4(ABCB11):c.1987G>A (p.Ala663Thr) rs371319925 0.00009
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_003742.4(ABCB11):c.155G>A (p.Arg52Gln) rs773884264 0.00004
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser) rs758339239 0.00003
NM_003742.4(ABCB11):c.283G>A (p.Val95Ile) rs201735739 0.00002
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp) rs369865521 0.00001
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr) rs372228971 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_003742.4(ABCB11):c.1000T>G (p.Phe334Val)
NM_003742.4(ABCB11):c.1297C>T (p.Pro433Ser)
NM_003742.4(ABCB11):c.1495G>T (p.Gly499Trp)
NM_003742.4(ABCB11):c.3133A>G (p.Lys1045Glu)
NM_003742.4(ABCB11):c.3517A>G (p.Asn1173Asp) rs764069770
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233

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