ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 1

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP
BBS1, 1-BP DEL, 1650C
NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) rs515726134
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.118del (p.Cys40fs)
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.1243del (p.Val415fs)
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024649.5(BBS1):c.724-1G>C rs748523268
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137

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