Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515335
rs397515335
SDCCAG8 ; MIR4677
0.925 0.120 1 243344277 frameshift variant G/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs751375244
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1054138918
rs1054138918
BBS5
0.925 0.120 2 169487068 splice acceptor variant G/C snv 4.0E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs121908581
rs121908581
BBS5
0.925 0.120 2 169487811 missense variant G/A snv 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.710 1.000 1 2019 2019
dbSNP: rs1272140892
rs1272140892
BBS5
1.000 0.120 2 169482312 frameshift variant A/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1466289570
rs1466289570
BBS5
1.000 0.120 2 169503094 splice acceptor variant G/A;T snv 1.2E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs1559121920
rs1559121920
BBS5
1.000 0.120 2 169487092 missense variant A/G snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs772757329
rs772757329
BBS5
1.000 0.120 2 169487993 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2018 2018
dbSNP: rs104893678
rs104893678
ARL6
0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs515726135
rs515726135
LZTFL1
0.925 0.120 3 45835653 missense variant A/G snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs515726136
rs515726136
LZTFL1 ; LOC107986083
0.925 0.120 3 45827459 stop gained C/A snv 8.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs119466002
rs119466002
BBS7
0.882 0.120 4 121854790 missense variant G/A snv 8.0E-06 6.3E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 5 2003 2013
dbSNP: rs587777803
rs587777803
BBS12
0.925 0.120 4 122743006 frameshift variant TT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 4 2007 2019
dbSNP: rs138011813
rs138011813
BBS12
0.925 0.120 4 122743394 missense variant C/T snv 3.6E-05 2.0E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2010 2019
dbSNP: rs752202089
rs752202089
BBS12
0.925 0.120 4 122743915 stop gained C/T snv 8.1E-06 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2010 2019
dbSNP: rs1269565757
rs1269565757
BBS12
0.925 0.120 4 122743267 stop gained C/T snv 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2010 2011
dbSNP: rs1553941369
rs1553941369
BBS12
0.925 0.120 4 122742900 frameshift variant GT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2007 2014
dbSNP: rs760165634
rs760165634
BBS7
1.000 0.120 4 121854707 frameshift variant CTCT/- delins 5.2E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2009 2015
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1339432710
rs1339432710
BBS12
1.000 0.120 4 122742561 frameshift variant -/A delins 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1560638613
rs1560638613
BBS7
1.000 0.120 4 121828618 splice donor variant C/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2003 2003
dbSNP: rs1560658189
rs1560658189
BBS7
1.000 0.120 4 121853042 stop gained T/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2003 2003
dbSNP: rs565073445
rs565073445
BBS12
1.000 0.120 4 122741957 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019