ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_024649.5(BBS1):c.*955G>A rs1791686 0.34601
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23257
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_024649.5(BBS1):c.*428G>C rs41302425 0.02701
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.01996
NM_024649.5(BBS1):c.*1215T>C rs115354748 0.01605
NM_024649.5(BBS1):c.*187C>T rs148117167 0.00568
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00262
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00182
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_024649.5(BBS1):c.*219A>G rs74451472 0.00082
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_024649.5(BBS1):c.*1349T>C rs752758324 0.00035
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00033
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_024649.5(BBS1):c.*522C>T rs886048528 0.00018
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00015
NM_024649.5(BBS1):c.*104G>C rs554182779 0.00013
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00012
NM_024649.5(BBS1):c.*514C>T rs886048527 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479 0.00009
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp) rs544767888 0.00008
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788 0.00007
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652 0.00006
NM_024649.5(BBS1):c.*473C>T rs886048526 0.00005
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024649.5(BBS1):c.830+12C>T rs781283997 0.00004
NM_024649.5(BBS1):c.*1217C>A rs1057306658 0.00003
NM_024649.5(BBS1):c.*474G>A rs146244814 0.00003
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749 0.00003
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900 0.00003
NM_024649.5(BBS1):c.*259C>A rs1040142241 0.00002
NM_024649.5(BBS1):c.*950C>T rs1344507018 0.00002
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00002
NM_024649.5(BBS1):c.*1088G>A rs886048531 0.00001
NM_024649.5(BBS1):c.*10T>A rs765633556 0.00001
NM_024649.5(BBS1):c.*1274A>G rs192684991 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383 0.00001
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576 0.00001
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala) rs748946143 0.00001
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681 0.00001
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 0.00001
NM_024649.5(BBS1):c.*51C>G rs757289650
NM_024649.5(BBS1):c.*776G>A rs1856839016
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T rs754365737
NM_024649.5(BBS1):c.1071T>C (p.Ile357=) rs1856362378
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys) rs753517084
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys) rs148576114

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