ClinVar Miner

List of variants in gene BBS10 reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.*1051C>T rs3087711 0.77456
NM_024685.4(BBS10):c.*769G>C rs73383520 0.10902
NM_024685.4(BBS10):c.*498A>G rs79517322 0.06435
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024685.4(BBS10):c.*805T>C rs73390067 0.04252
NM_024685.4(BBS10):c.-52C>T rs79580268 0.04214
NM_024685.4(BBS10):c.*1248A>G rs115516881 0.01249
NM_024685.4(BBS10):c.*87A>C rs138936387 0.00985
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_024685.3(BBS10):c.-71C>T rs569445445 0.00293
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_024685.4(BBS10):c.*955T>C rs141408782 0.00093
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_024685.4(BBS10):c.*632T>C rs78402495 0.00073
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_024685.4(BBS10):c.*106C>T rs886049847 0.00045
NM_024685.4(BBS10):c.*947G>T rs533206499 0.00042
NM_024685.4(BBS10):c.*529C>T rs571517922 0.00032
NM_024685.4(BBS10):c.*1197A>G rs1021806409 0.00024
NM_024685.4(BBS10):c.*773T>C rs549588883 0.00024
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024685.4(BBS10):c.*1250A>G rs182439491 0.00012
NM_024685.4(BBS10):c.*734G>T rs750187536 0.00011
NM_024685.4(BBS10):c.-48C>G rs752162179 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299 0.00007
NM_024685.4(BBS10):c.*1325T>C rs571032291 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_024685.4(BBS10):c.*1164A>G rs922929416 0.00004
NM_024685.4(BBS10):c.*1140A>G rs886049842 0.00003
NM_024685.4(BBS10):c.*1204T>A rs886049839 0.00003
NM_024685.4(BBS10):c.*177T>G rs189856910 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.1164C>T (p.Ser388=) rs1484593364 0.00002
NM_024685.4(BBS10):c.198-10T>C rs376497190 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024685.3(BBS10):c.-66C>T rs886049854 0.00001
NM_024685.4(BBS10):c.*1041G>T rs1184051032 0.00001
NM_024685.4(BBS10):c.*1113G>C rs1432385652 0.00001
NM_024685.4(BBS10):c.*119G>A rs886049846 0.00001
NM_024685.4(BBS10):c.*264A>T rs556444502 0.00001
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) rs1460652135 0.00001
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) rs750994616 0.00001
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile) rs144428139 0.00001
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_024685.4(BBS10):c.1992A>G (p.Ala664=) rs758730453 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 0.00001
NM_024685.4(BBS10):c.*1145A>C rs886049841
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*1275A>C rs886049837
NM_024685.4(BBS10):c.*48G>C rs1951752530
NM_024685.4(BBS10):c.*641AT[2] rs886049845
NM_024685.4(BBS10):c.*891T>C rs886049844
NM_024685.4(BBS10):c.*930A>G rs886049843
NM_024685.4(BBS10):c.-4A>G rs886049853
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1203A>T (p.Gly401=) rs1951762391
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu) rs1478926935
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr) rs886049850
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.1566G>T (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met) rs886049849
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.197+4C>T rs886049852
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe) rs886049848
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.681C>G (p.Gly227=) rs886049851
NM_024685.4(BBS10):c.969A>G (p.Ala323=) rs1951764520

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