ClinVar Miner

List of variants in gene ABCB11 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.383G>A (p.Arg128His) rs181533618 0.00066
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003742.4(ABCB11):c.3083C>T (p.Ala1028Val) rs1171209104 0.00001
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys) rs72549398 0.00001
GRCh37/hg19 2q31.1(chr2:169787175-169789043)x1
NM_003742.4(ABCB11):c.1059A>T (p.Glu353Asp) rs764569354
NM_003742.4(ABCB11):c.1435G>A (p.Val479Met) rs1693604604
NM_003742.4(ABCB11):c.1754C>A (p.Ala585Asp) rs2105959754
NM_003742.4(ABCB11):c.1807A>G (p.Lys603Glu)
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly) rs199671371
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.2012-2A>G
NM_003742.4(ABCB11):c.2238A>T (p.Lys746Asn)
NM_003742.4(ABCB11):c.3487C>A (p.Pro1163Thr)
NM_003742.4(ABCB11):c.3569C>A (p.Ala1190Glu)
NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro) rs1064797269
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys) rs1026511416
NM_003742.4(ABCB11):c.640G>A (p.Ala214Thr) rs1573953443
NM_003742.4(ABCB11):c.833G>A (p.Gly278Glu) rs1253763035
NM_003742.4(ABCB11):c.922C>T (p.Leu308Phe) rs780710769
NM_003742.4(ABCB11):c.98+5G>T rs2106055125

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