ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NC_000002.12:g.169504481_169504487del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NM_001278293.3(ARL6):c.350-13_350-2del rs1576465252
NM_001278293.3(ARL6):c.506del (p.Gly169fs)
NM_006642.5(SDCCAG8):c.307-1G>A rs1460888769
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_024649.5(BBS1):c.1111-2A>G
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1248+1G>T
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) rs372822977
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_152384.3(BBS5):c.143-1G>C rs1054138918
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.2056_2059ACAG[1] (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1789+1G>T rs201938124

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