Variants in gene ABCB4 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 41

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)	rs45575636	0.00625
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)	rs45596335	0.00155
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.2395-3T>C	rs377462787	0.00029
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)	rs371394487	0.00027
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=)	rs1057495486	0.00024
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)	rs8187808	0.00019
NM_000443.4(ABCB4):c.366A>G (p.Gly122=)	rs113445400	0.00016
NM_000443.4(ABCB4):c.80+5A>C	rs186976987	0.00016
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)	rs776616540	0.00011
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)	rs368458295	0.00008
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)	rs148865252	0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)	rs561612231	0.00006
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=)	rs771437431	0.00006
NM_000443.4(ABCB4):c.438C>T (p.Ile146=)	rs776179529	0.00005
NM_000443.4(ABCB4):c.1356+10A>G	rs374723850	0.00004
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=)	rs371013005	0.00003
NM_000443.4(ABCB4):c.525G>A (p.Thr175=)	rs558416191	0.00003
NM_000443.4(ABCB4):c.201C>T (p.His67=)	rs747703354	0.00002
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=)	rs1461886025	0.00002
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=)	rs766402494	0.00002
NM_000443.4(ABCB4):c.717G>A (p.Ser239=)	rs770169131	0.00002
NM_000443.4(ABCB4):c.1119+8A>C	rs1471180323	0.00001
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=)	rs916276498	0.00001
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)	rs748044865	0.00001
NM_000443.4(ABCB4):c.174G>A (p.Ser58=)	rs772771936	0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=)	rs8187787	0.00001
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=)	rs978222245	0.00001
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)	rs1297237099	0.00001
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=)	rs1435564748	0.00001
NM_000443.4(ABCB4):c.3633+9G>A	rs1554396917	0.00001
NM_000443.4(ABCB4):c.102G>T (p.Thr34=)	rs1277340029
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=)	rs771303478
NM_000443.4(ABCB4):c.207A>G (p.Ser69=)	rs914166042
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=)	rs8187802
NM_000443.4(ABCB4):c.303G>A (p.Ser101=)	rs886044650
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=)	rs1562950567
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=)	rs752578370
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=)	rs1029350022

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