ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (37):
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Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.724-1G>C rs748523268
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_025114.4(CEP290):c.1066-1G>A rs965522059
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408

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