ClinVar Miner

List of variants in gene ABCB4 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.2211+16C>T rs31668 0.92183
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
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.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.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_000443.4(ABCB4):c.833+6G>A rs202146217 0.00064
NM_000443.4(ABCB4):c.3486+10dup rs8187809

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