ClinVar Miner

List of variants in gene ABCB4 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000443.3(ABCB4):c.-1G>A rs45449704
NM_000443.3(ABCB4):c.1314G>A (p.Thr438=) rs45624933
NM_000443.3(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797
NM_000443.3(ABCB4):c.1893+6T>C rs8187798
NM_000443.3(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028
NM_000443.3(ABCB4):c.2211+16C>T rs31668
NM_000443.3(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801
NM_000443.3(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000443.3(ABCB4):c.3486+10dupA rs8187809
NM_000443.3(ABCB4):c.504C>T (p.Asn168=) rs1202283
NM_000443.3(ABCB4):c.711A>T (p.Ile237=) rs2109505
NM_000443.3(ABCB4):c.81-16A>G rs45552835
NM_000443.3(ABCB4):c.833+6G>A rs202146217

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