ClinVar Miner

List of variants reported as benign for bilirubin metabolism disease by Genome-Nilou Lab

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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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_000392.5(ABCC2):c.116A>T (p.Tyr39Phe) rs927344 0.99331
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_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_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_019844.4(SLCO1B3):c.699G>A (p.Met233Ile) rs7311358 0.71410
NM_019844.4(SLCO1B3):c.360-3C>T rs3764009 0.71397
NM_019844.4(SLCO1B3):c.1557A>G (p.Ala519=) rs2053098 0.71374
NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala) rs4149117 0.70446
NM_019844.4(SLCO1B3):c.1833G>A (p.Gly611=) rs3764006 0.69958
NM_000392.5(ABCC2):c.3258+56T>C rs4148396 0.65059
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964 0.58143
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_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283 0.53370
NM_003742.4(ABCB11):c.2344-157T>G rs860510 0.47138
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2179-17C>A rs853772 0.45482
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
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_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) rs2273697 0.18388
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_018668.5(VPS33B):c.1105+9C>T rs3826033 0.13431
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_000392.5(ABCC2):c.208-89C>T rs2756108
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
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_006446.5(SLCO1B1):c.727+33C>T rs2291076

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