ClinVar Miner

List of variants reported as likely benign for bilirubin metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000463.3(UGT1A1):c.*339G>C rs1042640 0.81209
NM_000463.3(UGT1A1):c.*211T>C rs10929303 0.73663
NM_000463.3(UGT1A1):c.*440G>C rs8330 0.72111
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000392.5(ABCC2):c.4062C>T (p.Ala1354=) rs17216275 0.01590
NM_000392.5(ABCC2):c.1058G>A (p.Arg353His) rs7080681 0.01505
NM_006446.5(SLCO1B1):c.*575G>A rs61760249 0.01303
NM_006446.5(SLCO1B1):c.1463G>C (p.Gly488Ala) rs59502379 0.01105
NM_006446.5(SLCO1B1):c.728-17_728-14del rs150936610 0.00968
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_000392.5(ABCC2):c.*259G>T rs138578110 0.00931
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
UGT1A1*6 rs4148323 0.00891
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_006446.5(SLCO1B1):c.1747+9A>G rs71577817 0.00741
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) rs56131651 0.00539
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=) rs79382866 0.00482
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_032830.3(UTP4):c.615C>T (p.Ser205=) rs144266389 0.00376
NM_018668.5(VPS33B):c.-269T>C rs561174112 0.00367
NM_001374385.1(ATP8B1):c.*827T>A rs182819607 0.00356
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_018668.5(VPS33B):c.363T>C (p.Tyr121=) rs149733667 0.00337
NM_000392.5(ABCC2):c.3817A>G (p.Thr1273Ala) rs8187699 0.00331
NM_032830.3(UTP4):c.1164+8A>G rs112053857 0.00330
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
NM_000392.5(ABCC2):c.4509-9T>C rs180717330 0.00294
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=) rs77851390 0.00265
NM_000392.5(ABCC2):c.1032-3C>T rs139800035 0.00253
NM_003742.4(ABCB11):c.*237T>C rs548624200 0.00214
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596 0.00191
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_018668.5(VPS33B):c.1701C>T (p.Leu567=) rs146999653 0.00165
NM_000392.5(ABCC2):c.2813G>A (p.Ser938Asn) rs112339372 0.00158
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00158
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys) rs112758556 0.00150
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 0.00145
NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val) rs17222554 0.00140
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00121
NM_003742.4(ABCB11):c.*440G>A rs79130028 0.00112
NM_000392.5(ABCC2):c.4313+11A>C rs17222681 0.00107
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507 0.00094
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_019844.4(SLCO1B3):c.727+7A>G rs376199890 0.00046
NM_006446.5(SLCO1B1):c.*328A>G rs4149086 0.00042
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_018668.5(VPS33B):c.604-14T>C rs143987577 0.00029
NM_000392.5(ABCC2):c.2747+5G>A rs138988852 0.00024
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_032830.3(UTP4):c.1287+4A>G rs201384904 0.00024
NM_001374385.1(ATP8B1):c.*1553T>G rs559805305 0.00004
NM_018668.5(VPS33B):c.1170+5G>A rs201431055 0.00004
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_006446.5(SLCO1B1):c.1794G>A (p.Thr598=) rs201556175 0.00003
NM_006446.5(SLCO1B1):c.633A>G (p.Ile211Met) rs201722521 0.00003
NM_032830.3(UTP4):c.635T>C (p.Val212Ala) rs538321215 0.00002
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu) rs8187692
NM_001374385.1(ATP8B1):c.*900G>A rs4940950
NM_001374385.1(ATP8B1):c.2098-17_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-19_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-21_2098-15dup rs34422185
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_006446.5(SLCO1B1):c.*134A>T rs567678480
NM_018668.5(VPS33B):c.240-13_240-12del rs111274092
NM_019844.4(SLCO1B3):c.-128del rs373018826
NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile) rs146940490

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