ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 7

Included ClinVar conditions (1):
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.198T>G (p.Ile66Met) rs367765050 0.00001
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
NM_176824.3(BBS7):c.328del (p.Ser110fs)
NM_176824.3(BBS7):c.341+2T>C
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
NM_176824.3(BBS7):c.517dup (p.Arg173fs)
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter) rs2149084783
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.649dup (p.Ala217fs) rs886044668
NM_176824.3(BBS7):c.718+1G>C
NM_176824.3(BBS7):c.719-2A>G
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
NM_176824.3(BBS7):c.849+1G>A
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)

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