ClinVar Miner

List of variants in gene ABCB4 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) rs886894962 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys) rs757931203 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.1119+2T>C
NM_000443.4(ABCB4):c.1283T>A (p.Val428Asp) rs1811114545
NM_000443.4(ABCB4):c.1357-1G>A
NM_000443.4(ABCB4):c.1357-2A>G
NM_000443.4(ABCB4):c.1560+1G>A rs2116689179
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His) rs1810212221
NM_000443.4(ABCB4):c.2064+3A>T
NM_000443.4(ABCB4):c.2394+1G>A
NM_000443.4(ABCB4):c.2783+1G>T
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.2948G>A (p.Gly983Asp)
NM_000443.4(ABCB4):c.3257A>C (p.Tyr1086Ser) rs745972631
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) rs1562945221
NM_000443.4(ABCB4):c.433C>T (p.Gln145Ter)
NM_000443.4(ABCB4):c.79A>G (p.Ser27Gly) rs1563012148
NM_000443.4(ABCB4):c.80+1G>A
NM_000443.4(ABCB4):c.80+2T>A
NM_000443.4(ABCB4):c.833+1G>A

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