ClinVar Miner

List of variants studied for benign recurrent intrahepatic cholestasis type 2 by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_003742.4(ABCB11):c.1434+70C>T rs2287623 0.57088
NM_003742.4(ABCB11):c.1638+32T>C rs2241340 0.57009
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_003742.4(ABCB11):c.1638+80C>T rs2241341 0.56946
NM_003742.4(ABCB11):c.2344-157T>G rs860510 0.47138
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2179-17C>A rs853772 0.45482
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_003742.4(ABCB11):c.908+108A>G rs4148780 0.13132
NM_003742.4(ABCB11):c.1309-93G>A rs55669065 0.07356
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys) rs377170187 0.00033
NM_003742.4(ABCB11):c.2488del (p.Arg830fs) rs756323541
NM_003742.4(ABCB11):c.3766-34A>G rs579275

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