ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP
NM_024649.5(BBS1):c.*104G>C rs554182779
NM_024649.5(BBS1):c.*1088G>A rs886048531
NM_024649.5(BBS1):c.*10T>A rs765633556
NM_024649.5(BBS1):c.*1215T>C rs115354748
NM_024649.5(BBS1):c.*1217C>A
NM_024649.5(BBS1):c.*1274A>G
NM_024649.5(BBS1):c.*1349T>C
NM_024649.5(BBS1):c.*187C>T
NM_024649.5(BBS1):c.*219A>G
NM_024649.5(BBS1):c.*259C>A
NM_024649.5(BBS1):c.*428G>C rs41302425
NM_024649.5(BBS1):c.*473C>T rs886048526
NM_024649.5(BBS1):c.*474G>A
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*51C>G
NM_024649.5(BBS1):c.*522C>T rs886048528
NM_024649.5(BBS1):c.*776G>A
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.*840A>G rs3741360
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T
NM_024649.5(BBS1):c.*950C>T
NM_024649.5(BBS1):c.*955G>A rs1791686
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1071T>C (p.Ile357=)
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1110+15C>T rs371084544
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)
NM_024649.5(BBS1):c.1695+10G>A rs200276861
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.432+13C>T rs759287238
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076
NM_024649.5(BBS1):c.830+12C>T rs781283997
NM_024649.5(BBS1):c.831-5C>T rs56177555
NM_024649.5(BBS1):c.867C>T (p.Ser289=)
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482

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