ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

Included ClinVar conditions (37):
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Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NM_001195305.3(BBIP1):c.38-6T>C
NM_006642.5(SDCCAG8):c.741-152G>A
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp) rs751375244
NM_015910.7(WDPCP):c.2078+1G>T
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
NM_024649.5(BBS1):c.830+2T>C
NM_024649.5(BBS1):c.951+58C>T
NM_031885.4(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn)
NM_031885.5(BBS2):c.365del (p.Ala122fs)
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)
NM_176824.3(BBS7):c.1469_1470CT[1] (p.Leu491fs)
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
Single allele

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