ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
GRCh38/hg38 16q13(chr16:56496014-56504285)
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
GRCh38/hg38 4q27(chr4:121828489-121829219)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
NM_001270894.1(TRAPPC3):c.208C>T (p.Arg70Trp) rs751375244
NM_018848.3(MKKS):c.1235G>T (p.Cys412Phe)
NM_018848.3(MKKS):c.837del (p.Gly280Glufs)
NM_024649.4(BBS1):c.1131_1135del5 (p.Cys377Trpfs) rs786204701
NM_024649.4(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.4(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.4(BBS1):c.432+1G>A rs587777829
NM_024649.4(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.4(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.1110+3G>C
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)
NM_031885.3(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.3(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.3(BBS2):c.1770delT (p.Phe590Leufs) rs193922711
NM_031885.3(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.3(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_033028.4(BBS4):c.1106+2T>A rs886041464
NM_033028.4(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_152384.2(BBS5):c.143-1G>C
NM_152384.2(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.2(BBS5):c.817-1G>A
NM_152618.2(BBS12):c.2060_2063delACAG (p.Asp687Valfs)
NM_176824.2(BBS7):c.1786+1G>T
NM_198428.2(BBS9):c.1552+2T>A
NM_198428.2(BBS9):c.1789+1G>T

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