ClinVar Miner

List of variants in gene combination UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000463.3(UGT1A1):c.864+1G>C rs587776764 0.00006
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.622_625dup (p.Arg209fs) rs766536479 0.00001
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) rs797046091
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs) rs587776761

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