List of variants in gene ABCB4 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 7

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HGVS	dbSNP	gnomAD frequency
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.1283T>A (p.Val428Asp)	rs1811114545
NM_000443.4(ABCB4):c.1560+1G>A	rs2116689179
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.3257A>C (p.Tyr1086Ser)	rs745972631

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