ClinVar Miner

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

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Total variants: 35
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HGVS dbSNP
NC_000002.12:g.169504481_169504487del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015910.7(WDPCP):c.633+2T>C
NM_024649.5(BBS1):c.1111-2A>G
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024649.5(BBS1):c.480-2A>C
NM_024649.5(BBS1):c.723+1G>C
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
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_031885.4(BBS2):c.941-2A>C rs878962682
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.5(BBS2):c.1398-2A>G
NM_031885.5(BBS2):c.718-2A>C
NM_031885.5(BBS2):c.804+1_804+14del
NM_031885.5(BBS2):c.941-1G>C
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1248+1G>T
NM_033028.5(BBS4):c.333-1G>C
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_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1789+1G>T rs201938124

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