ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.50+168T>C rs372127517
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_001278293.3(ARL6):c.*470G>A rs184213166
NM_001278293.3(ARL6):c.-240C>T rs116162146
NM_001278293.3(ARL6):c.-27-1461A>T rs143739859
NM_001365068.1(ASTN2):c.2806+25375G>C rs116058338
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_006642.5(SDCCAG8):c.-4G>A rs113193158
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404
NM_015910.6(WDPCP):c.-396T>G rs2278718
NM_015910.7(WDPCP):c.*327G>A
NM_015910.7(WDPCP):c.-113C>A rs192963932
NM_015910.7(WDPCP):c.-188G>C rs187916591
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991
NM_017777.4(MKS1):c.*134C>T
NM_018848.3(MKKS):c.-349A>G rs140884406
NM_018848.3(MKKS):c.-649+6T>G rs377246386
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_018848.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_024649.5(BBS1):c.*219A>G
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.-33G>T rs139415563
NM_025114.4(CEP290):c.1522+6C>T rs148446546
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_031885.3(BBS2):c.-199A>T rs569642995
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_033028.5(BBS4):c.*43G>T rs144706746
NM_033028.5(BBS4):c.*522A>G
NM_033028.5(BBS4):c.*691G>A
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_144596.4(TTC8):c.*83A>G rs147325843
NM_144596.4(TTC8):c.*93G>A
NM_144596.4(TTC8):c.-25G>A rs7145692
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412
NM_152618.3(BBS12):c.*187dup rs386401352
NM_152618.3(BBS12):c.-61G>C rs59440868
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_198309.3(TTC8):c.595-5C>T rs137853922
NM_198428.3(BBS9):c.*444G>A rs75625812
NM_198428.3(BBS9):c.-305T>G rs112060099
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1245C>T (p.Val415=)
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133

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