List of variants in gene ABCB4 reported as pathogenic by OMIM

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)	rs58238559	0.00910
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)	rs45575636	0.00625
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	rs72552778	0.00018
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)	rs121918442	0.00003
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)	rs121918440	0.00002
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)	rs72552780	0.00001
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)	rs121918443
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)	rs387906528
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)	rs397514620
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)	rs121918441
NM_000443.4(ABCB4):c.1712del (p.Val571fs)	rs387906527
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs)	rs387906529
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs)	rs387906526

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