ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome by Invitae

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ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_001365068.1(ASTN2):c.2806+26754A>G rs150813870
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_001365068.1(ASTN2):c.2806+28023A>C rs141352486
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.1916-6C>T rs2421862
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1695+10G>A rs200276861
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.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.433-5C>T rs542052064
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.831-5C>T rs56177555
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702
NM_031885.4(BBS2):c.1110T>C (p.Ala370=) rs148990271
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.209A>G (p.Asn70Ser) rs4784677
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.865A>G (p.Ile289Val) rs150384293
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361
NM_033028.5(BBS4):c.24+8C>T rs200055760
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333
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_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540
NM_152384.3(BBS5):c.39C>G (p.Val13=) rs10188609
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485
NM_152384.3(BBS5):c.817-5T>G rs780213701
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418
NM_198309.3(TTC8):c.595-5C>T rs137853922
NM_198428.3(BBS9):c.1017-6T>C rs61756571
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
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.1363G>A (p.Ala455Thr) rs11773504
NM_198428.3(BBS9):c.1432+7T>G rs150963080
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892
NM_198428.3(BBS9):c.1694-6T>C rs28622379
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133

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