List of variants reported as pathogenic for Johanson-Blizzard syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter)	rs119477055	0.00001
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)	rs374049779	0.00001
NM_174916.3(UBR1):c.1440-1G>A	rs1596118528
NM_174916.3(UBR1):c.2254+2T>C	rs2141312913
NM_174916.3(UBR1):c.2379+1G>C
NM_174916.3(UBR1):c.2839+5G>A	rs1596106023
NM_174916.3(UBR1):c.4054-2A>G	rs780491123
NM_174916.3(UBR1):c.407A>G (p.His136Arg)	rs119477054
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter)	rs797045112
NM_174916.3(UBR1):c.529-13G>A	rs1265375100

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