ClinVar Miner

List of variants reported for Bardet-Biedl syndrome 1 by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152384.3(BBS5):c.226A>G (p.Ile76Val) rs763696357 0.00002
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) rs2150737232
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634

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