ClinVar Miner

List of variants in gene combination UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 reported as pathogenic for inborn disorder of porphyrin metabolism

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NC_000002.12:g.233758936= rs3755319 0.48325
UGT1A1*6 rs4148323 0.00891
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000463.3(UGT1A1):c.864+1G>C rs587776764 0.00006
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr) rs397978903 0.00003
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348 0.00002
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) rs139607673 0.00001
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) rs72551353 0.00001
NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) rs28934877 0.00001
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs) rs766536479 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000463.2(UGT1A1):c.-53_-52insTA rs1559406508
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg) rs72551351
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000463.3(UGT1A1):c.1085-2A>G rs587776766
NM_000463.3(UGT1A1):c.1156G>T (p.Val386Phe)
NM_000463.3(UGT1A1):c.1184G>T (p.Gly395Val)
NM_000463.3(UGT1A1):c.1216_1225del (p.Thr406fs)
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000463.3(UGT1A1):c.1270G>T (p.Glu424Ter) rs2126038122
NM_000463.3(UGT1A1):c.1304+1G>T rs2126038220
NM_000463.3(UGT1A1):c.1305-1G>A
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter) rs587776765
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.3(UGT1A1):c.247T>C (p.Phe83Leu)
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000463.3(UGT1A1):c.380_381insGG (p.Cys127fs) rs2125987009
NM_000463.3(UGT1A1):c.389dup (p.Leu130fs) rs2125987072
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.474_475insT (p.Ile159fs) rs587776763
NM_000463.3(UGT1A1):c.492_493del (p.Leu166fs) rs2125987779
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) rs587776762
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000463.3(UGT1A1):c.652dup (p.Ser218fs)
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) rs797046091
NM_000463.3(UGT1A1):c.725del (p.Val242fs) rs2125989471
NM_000463.3(UGT1A1):c.826G>C (p.Gly276Arg) rs72551345
NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter) rs281865418
NM_000463.3(UGT1A1):c.847C>T (p.Gln283Ter)
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs) rs587776761
NM_000463.3(UGT1A1):c.931del (p.Val311fs) rs2126030394
NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter) rs111033539
UGT1A1*28 rs3064744

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