ClinVar Miner

List of variants in gene combination UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
UGT1A1*6 rs4148323 0.00891
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
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.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) rs139607673 0.00001
NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter) rs72551350 0.00001
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) rs72551353 0.00001
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) rs1283652721 0.00001
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg) rs1476500325 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_000463.3(UGT1A1):c.1002del (p.Trp335fs)
NM_000463.3(UGT1A1):c.1043del (p.Asn348fs) rs745655794
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) rs1559414817
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter)
NM_000463.3(UGT1A1):c.164dup (p.His55fs)
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs) rs797046090
NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs) rs2125985854
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) rs587776762
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr) rs1373930486
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln) rs1553620849
NM_000463.3(UGT1A1):c.615del (p.Phe206fs)
NM_000463.3(UGT1A1):c.679dup (p.Tyr227fs) rs2125989162
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.72dup (p.Ser25fs) rs2125983046
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs) rs775463336
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs) rs587776761
NM_000463.3(UGT1A1):c.977T>A (p.Leu326Ter) rs372326047
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744

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