ClinVar Miner

List of variants in gene UTP4 studied for biliary tract disorder

Included ClinVar conditions (55):
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Gene type:
ClinVar version:
Total variants: 39
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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.615C>T (p.Ser205=) rs144266389 0.00376
NM_032830.3(UTP4):c.1164+8A>G rs112053857 0.00330
NM_032830.3(UTP4):c.302G>T (p.Gly101Val) rs144369314 0.00227
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_032830.3(UTP4):c.1183T>C (p.Cys395Arg) rs138998503 0.00106
NM_032830.3(UTP4):c.1083A>G (p.Gly361=) rs34747774 0.00084
NM_032830.3(UTP4):c.1376G>A (p.Gly459Glu) rs141398922 0.00056
NM_032830.3(UTP4):c.1788C>T (p.Ile596=) rs75998507 0.00051
NM_032830.3(UTP4):c.1287+6T>C rs201299923 0.00025
NM_032830.3(UTP4):c.1287+4A>G rs201384904 0.00024
NM_032830.3(UTP4):c.846G>A (p.Pro282=) rs150182351 0.00024
NM_032830.3(UTP4):c.1165-7T>C rs200957784 0.00010
NM_032830.3(UTP4):c.1444+6A>C rs201088638 0.00010
NM_032830.3(UTP4):c.1451T>G (p.Val484Gly) rs199824083 0.00009
NM_032830.3(UTP4):c.1536C>T (p.Asn512=) rs144493973 0.00009
NM_032830.3(UTP4):c.1904G>A (p.Arg635Lys) rs761295812 0.00009
NM_032830.3(UTP4):c.*67A>C rs1015958388 0.00004
NM_032830.3(UTP4):c.1610A>G (p.Asn537Ser) rs138922775 0.00002
NM_032830.3(UTP4):c.531C>T (p.Ser177=) rs370682701 0.00002
NM_032830.3(UTP4):c.57C>A (p.Ile19=) rs141243868 0.00002
NM_032830.3(UTP4):c.635T>C (p.Val212Ala) rs538321215 0.00002
NM_032830.3(UTP4):c.871C>T (p.Arg291Cys) rs773025409 0.00002
NM_032830.3(UTP4):c.1002+15C>T rs370811526 0.00001
NM_032830.3(UTP4):c.1249C>T (p.Arg417Trp) rs772154514 0.00001
NM_032830.3(UTP4):c.1621C>T (p.Leu541Phe) rs1031659078 0.00001
NM_032830.3(UTP4):c.1677G>T (p.Gln559His) rs1963675848 0.00001
NM_032830.3(UTP4):c.739-6C>G rs373200948 0.00001
NM_032830.3(UTP4):c.-2-3T>C rs1962709947
NM_032830.3(UTP4):c.1308C>T (p.Phe436=) rs140221825
NM_032830.3(UTP4):c.418A>G (p.Asn140Asp) rs1962851495
NM_032830.3(UTP4):c.632G>A (p.Ser211Asn) rs1963017242
NM_032830.3(UTP4):c.754G>T (p.Val252Leu) rs375128162
NM_032830.3(UTP4):c.872G>A (p.Arg291His) rs760350216

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