ClinVar Miner

List of variants in gene BBS4 reported as pathogenic for Bardet-Biedl syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) rs372822977 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter) rs1338469029 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.2T>C (p.Met1Thr) rs1302879683 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
NC_000015.10:g.(?_72686218)_(72686261_?)del
NC_000015.10:g.(?_72709680)_(72712327_?)del
NC_000015.10:g.(?_72715271)_(72716870_?)del
NC_000015.10:g.72708224_72722485del
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
NC_000015.9:g.(?_72978549)_(73029948_?)del
NC_000015.9:g.(?_72978569)_(73009211_?)del
NC_000015.9:g.(?_73004585)_(73004648_?)del
NC_000015.9:g.(?_73015115)_(73020355_?)del
NC_000015.9:g.(?_73015115)_(73024087_?)del
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
NM_033028.5(BBS4):c.1064_1106+97del
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs) rs2065911287
NM_033028.5(BBS4):c.1126dup (p.Leu376fs) rs2065911518
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1248+1G>A
NM_033028.5(BBS4):c.1248+1G>T rs1419924139
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter) rs2065331681
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
NM_033028.5(BBS4):c.157-1G>T
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
NM_033028.5(BBS4):c.217del (p.Gln73fs)
NM_033028.5(BBS4):c.220+1G>A
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
NM_033028.5(BBS4):c.281del (p.Ala94fs) rs2151023363
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
NM_033028.5(BBS4):c.332+2_332+3insTT rs753360929
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
NM_033028.5(BBS4):c.458del (p.Lys153fs)
NM_033028.5(BBS4):c.459+1G>A
NM_033028.5(BBS4):c.469del (p.Gln157fs)
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) rs367882912
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
NM_033028.5(BBS4):c.623T>A (p.Leu208Ter) rs1358520224
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
NM_033028.5(BBS4):c.642+2T>G
NM_033028.5(BBS4):c.656dup (p.Lys220fs)
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_033028.5(BBS4):c.76+2T>C
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
NM_033028.5(BBS4):c.836_842del (p.Cys279fs) rs2151047525
NM_033028.5(BBS4):c.87del (p.Pro30fs)
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033028.5(BBS4):c.929del (p.Leu310fs) rs889012564
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter) rs1567430070
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152

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