List of variants in gene ABCB11 reported as uncertain significance by Neuberg Centre For Genomic Medicine, NCGM

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)	rs200870815	0.00023
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)	rs1187818271	0.00001
NM_003742.4(ABCB11):c.149T>C (p.Leu50Ser)	rs771468316
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)	rs2545382640
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)	rs2545379670
NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)	rs2545298260
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu)	rs2105881962
NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)	rs546906441
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)	rs761200259
NM_003742.4(ABCB11):c.712G>A (p.Gly238Ser)

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