ClinVar Miner

List of variants in gene UTP4 reported as benign for bilirubin metabolism disease

Included ClinVar conditions (39):
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_032830.3(UTP4):c.714C>T (p.Asp238=) rs2288036 0.04782
NM_032830.3(UTP4):c.1906C>T (p.Arg636Cys) rs61185783 0.03200
NM_032830.3(UTP4):c.*68A>G rs74886619 0.01911
NM_032830.3(UTP4):c.1257T>C (p.Asn419=) rs149792921 0.00658
NM_032830.3(UTP4):c.1313G>A (p.Arg438His) rs8056684 0.00522
NM_032830.3(UTP4):c.270G>A (p.Ala90=) rs16958656 0.00501
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_032830.3(UTP4):c.1788C>T (p.Ile596=) rs75998507 0.00051

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