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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	rs72552778	0.00018
NM_000443.4(ABCB4):c.2211+1G>A	rs794727183	0.00002
NM_000443.4(ABCB4):c.1006-1G>T	rs772823352	0.00001
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)	rs1554407511	0.00001
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter)	rs376926391	0.00001
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter)	rs886042562	0.00001
NM_000443.4(ABCB4):c.3486+1G>A	rs764513998	0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	rs377160065	0.00001
NM_000443.4(ABCB4):c.1006-2A>C	rs1348606984
NM_000443.4(ABCB4):c.100dup (p.Thr34fs)	rs1554417376
NM_000443.4(ABCB4):c.1015del (p.Ser339fs)	rs753104429
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter)	rs1562976167
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)	rs1562976061
NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs)	rs1562975541
NM_000443.4(ABCB4):c.1943del (p.Lys648fs)	rs1562965250
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter)	rs1562965098
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs)	rs1562963055
NM_000443.4(ABCB4):c.2316+1G>A	rs1562961442
NM_000443.4(ABCB4):c.2446del (p.Arg816fs)	rs1554401344
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter)	rs1554401324
NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer)	rs886043734
NM_000443.4(ABCB4):c.2626A>T (p.Lys876Ter)	rs886043725
NM_000443.4(ABCB4):c.3081+1G>C	rs750829010
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)	rs759202962
NM_000443.4(ABCB4):c.3280-1G>C	rs1562949296
NM_000443.4(ABCB4):c.345-2A>G	rs1562989885
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter)	rs748842753
NM_000443.4(ABCB4):c.3633+1G>T	rs1245472904
NM_000443.4(ABCB4):c.609dup (p.Ala204fs)	rs1562988165
NM_000443.4(ABCB4):c.834-2A>G	rs1562983531
NM_000443.4(ABCB4):c.879del (p.Ala294fs)	rs1326932143
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter)	rs199504845
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter)	rs1562983272
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter)	rs1563009379

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