List of variants studied for Johanson-Blizzard syndrome

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_174916.3(UBR1):c.4700+12A>G	rs2054389	0.85593
NM_174916.3(UBR1):c.862-18C>T	rs4924704	0.85492
NM_174916.3(UBR1):c.2379+29G>T	rs3736054	0.83957
NM_174916.3(UBR1):c.2695A>G (p.Ile899Val)	rs35069201	0.01889
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly)	rs77360687	0.00842
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)	rs142285781	0.00053
NM_174916.3(UBR1):c.947G>A (p.Arg316His)	rs147396426	0.00017
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.1539+2T>G	rs2033511910
NM_174916.3(UBR1):c.1912-6T>G	rs1131691523
NM_174916.3(UBR1):c.2075T>C (p.Ile692Thr)
NM_174916.3(UBR1):c.2254+2T>C	rs2141312913
NM_174916.3(UBR1):c.2261G>A (p.Arg754His)	rs1567131023
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu)	rs1131691524
NM_174916.3(UBR1):c.2379+1G>C
NM_174916.3(UBR1):c.2839+5G>A	rs1596106023
NM_174916.3(UBR1):c.3848+5G>A	rs2141276718
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.4745del (p.Asn1582fs)
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)	rs963383651
NM_174916.3(UBR1):c.529-13G>A	rs1265375100
NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)
NM_174916.3(UBR1):c.81+32T>C	rs68062403

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