List of variants in gene ABCB11 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.3083C>T (p.Ala1028Val)	rs1171209104	0.00001
GRCh37/hg19 2q31.1(chr2:169787175-169789043)x1
NM_003742.4(ABCB11):c.1754C>A (p.Ala585Asp)	rs2105959754
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)	rs199671371
NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro)	rs1064797269
NM_003742.4(ABCB11):c.98+5G>T	rs2106055125

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