List of variants in gene UBR1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_174916.3(UBR1):c.1688C>A (p.Ala563Asp)	rs768686147	0.00001
NC_000015.9:g.(?_43258452)_(43295241_?)del
NC_000015.9:g.(?_43307866)_(43320046_?)dup
NM_174916.3(UBR1):c.1094-12A>G
NM_174916.3(UBR1):c.1183-11_1185del
NM_174916.3(UBR1):c.1258C>A (p.Gln420Lys)	rs786205492
NM_174916.3(UBR1):c.1912-6T>G	rs1131691523
NM_174916.3(UBR1):c.2191-1G>T
NM_174916.3(UBR1):c.2255-2A>G
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu)	rs1131691524
NM_174916.3(UBR1):c.2941-1G>C
NM_174916.3(UBR1):c.338+2T>G
NM_174916.3(UBR1):c.3510-1_3510delinsTT
NM_174916.3(UBR1):c.3757+1G>A
NM_174916.3(UBR1):c.3758-2A>T
NM_174916.3(UBR1):c.3848+1G>A
NM_174916.3(UBR1):c.4592-1G>C
NM_174916.3(UBR1):c.4757+1G>C
NM_174916.3(UBR1):c.677A>C (p.Tyr226Ser)	rs1057523835
NM_174916.3(UBR1):c.985+2T>A
NM_174916.3(UBR1):c.985+2T>C

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