ClinVar Miner

List of variants reported as benign for biliary tract disorder by Genome-Nilou Lab

Included ClinVar conditions (55):
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ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr) rs222581 0.99879
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.1430-89C>T rs319459 0.99232
NM_001374385.1(ATP8B1):c.699-52C>T rs319442 0.99086
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
NM_016356.5(DCDC2):c.426-13C>T rs807703 0.98337
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_000443.4(ABCB4):c.1357-40A>G rs31675 0.92657
NM_000443.4(ABCB4):c.2211+16C>T rs31668 0.92183
NM_000443.4(ABCB4):c.3487-16T>C rs31653 0.91450
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_021101.5(CLDN1):c.369T>C (p.Gly123=) rs9869263 0.83180
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_000443.4(ABCB4):c.2211+72T>C rs31667 0.75307
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_016356.5(DCDC2):c.*3C>G rs9358755 0.72045
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
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_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305 0.51051
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_000214.3(JAG1):c.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_001374385.1(ATP8B1):c.698+20C>T rs319439 0.42536
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_001374385.1(ATP8B1):c.1932+44C>T rs317838 0.39951
NM_004817.4(TJP2):c.2992-19G>A rs2282335 0.39706
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_004817.4(TJP2):c.2180-34G>A rs2309421 0.22518
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075 0.13584
NM_003742.4(ABCB11):c.908+108A>G rs4148780 0.13132
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_003742.4(ABCB11):c.1309-93G>A rs55669065 0.07356
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_001374385.1(ATP8B1):c.1430-126_1430-124del rs10594129
NM_003742.4(ABCB11):c.3766-34A>G rs579275
NM_004817.4(TJP2):c.1672-27del rs202100183
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006

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