ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 4 by Baylor Genetics

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.333-2A>C rs374525425 0.00002
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs) rs2065896039 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1248+1G>A rs1419924139 0.00001
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00001
NM_033028.5(BBS4):c.276_277del (p.Ala94fs) rs2065449114 0.00001
NM_033028.5(BBS4):c.616dup (p.Thr206fs) rs775903241 0.00001
NM_033028.5(BBS4):c.642+1G>A rs1180642796 0.00001
NM_033028.5(BBS4):c.101del (p.Lys34fs) rs2065331078
NM_033028.5(BBS4):c.1037-2A>G rs2543008060
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter) rs2542931886
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter) rs1336636537
NM_033028.5(BBS4):c.1106+1G>A rs2543008537
NM_033028.5(BBS4):c.1106+2T>C rs886041464
NM_033028.5(BBS4):c.1106del (p.Lys369fs) rs2543008525
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter) rs1261627387
NM_033028.5(BBS4):c.1124del (p.Asn375fs) rs2543011927
NM_033028.5(BBS4):c.1159G>T (p.Glu387Ter) rs778082012
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter) rs1034973830
NM_033028.5(BBS4):c.118del (p.His40fs) rs2542931956
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs) rs2543012535
NM_033028.5(BBS4):c.1234dup (p.Glu412fs) rs2543012789
NM_033028.5(BBS4):c.1248+2dup rs2543012908
NM_033028.5(BBS4):c.1249-2A>C rs2065932114
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter) rs780827837
NM_033028.5(BBS4):c.1294dup (p.Glu432fs) rs912967826
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter) rs2543016391
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1389dup (p.Ser464fs) rs750462550
NM_033028.5(BBS4):c.1398del (p.Ala467fs) rs2543017132
NM_033028.5(BBS4):c.1400dup (p.Leu468fs) rs2543017151
NM_033028.5(BBS4):c.150del (p.Cys51fs) rs2542932189
NM_033028.5(BBS4):c.175del (p.Leu59fs) rs772574360
NM_033028.5(BBS4):c.210_213del (p.Ile70fs) rs775928735
NM_033028.5(BBS4):c.220+1G>A rs113994190
NM_033028.5(BBS4):c.24+1G>A rs759520211
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter) rs1389369745
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.389_393del (p.Leu130fs) rs2542954553
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter) rs2542954655
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter) rs2542969236
NM_033028.5(BBS4):c.412del (p.Ser138fs) rs2542969256
NM_033028.5(BBS4):c.460-2A>T rs2542973522
NM_033028.5(BBS4):c.466_479del (p.Asp156fs) rs2542973531
NM_033028.5(BBS4):c.511dup (p.Tyr171fs) rs2542973797
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter) rs2542892124
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs) rs2542974244
NM_033028.5(BBS4):c.608_609del (p.Glu203fs) rs2542985744
NM_033028.5(BBS4):c.60del (p.Lys20fs) rs2542892142
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.642+2T>G rs1368727960
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter) rs2542892241
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer) rs2542997324
NM_033028.5(BBS4):c.864+1G>A rs2151047618
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033028.5(BBS4):c.87del (p.Pro30fs) rs2542931807
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter) rs2542931853
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152

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