ClinVar Miner

List of variants in gene ABCB4 reported as benign by Invitae

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.2211+16C>T rs31668 0.92183
NM_000443.4(ABCB4):c.3487-16T>C rs31653 0.91450
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387 0.23630
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22260
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01640
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_000443.4(ABCB4):c.81-16A>G rs45552835 0.00746
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
NM_000443.4(ABCB4):c.536+11T>C rs8187790 0.00315
NM_000443.4(ABCB4):c.2395-19C>T rs45593648 0.00260
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055 0.00177
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_000443.4(ABCB4):c.833+6G>A rs202146217 0.00064
NM_000443.4(ABCB4):c.1231-16C>T rs56229233 0.00037
NM_000443.4(ABCB4):c.1357-17A>G rs201173706 0.00037
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00006
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000443.4(ABCB4):c.1231-17del
NM_000443.4(ABCB4):c.1231-17dup
NM_000443.4(ABCB4):c.2254A>C (p.Asn752His)
NM_000443.4(ABCB4):c.2317-10del
NM_000443.4(ABCB4):c.345-4del
NM_000443.4(ABCB4):c.345-4dup
NM_000443.4(ABCB4):c.3486+10dup rs8187809
NM_000443.4(ABCB4):c.81-5del
NM_000443.4(ABCB4):c.81-5dup
NM_000443.4(ABCB4):c.833+15T>G

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