ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333
NM_001365068.1(ASTN2):c.2806+26861G>A rs754554333
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322
NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.724-1G>C rs748523268
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
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.1670G>A (p.Arg557His) rs184018899
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.4437+1G>A rs760915898
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.4938A>G (p.Lys1646=) rs371582975
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
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_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625
NM_152384.3(BBS5):c.143-1G>C rs1054138918
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298
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.1046T>C (p.Leu349Ser) rs386834180
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
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832

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