List of variants in gene UTP4 reported as uncertain significance for intrahepatic cholestasis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
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.1287+6T>C	rs201299923	0.00025
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.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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