ClinVar Miner

List of variants in gene BBS10 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_024685.4(BBS10):c.*106C>T rs886049847
NM_024685.4(BBS10):c.*1140A>G rs886049842
NM_024685.4(BBS10):c.*1145A>C rs886049841
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*119G>A rs886049846
NM_024685.4(BBS10):c.*1204T>A rs886049839
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*1248A>G rs115516881
NM_024685.4(BBS10):c.*1250A>G rs182439491
NM_024685.4(BBS10):c.*1275A>C rs886049837
NM_024685.4(BBS10):c.*1325T>C rs571032291
NM_024685.4(BBS10):c.*177T>G rs189856910
NM_024685.4(BBS10):c.*641_*642AT[2] rs886049845
NM_024685.4(BBS10):c.*773T>C rs549588883
NM_024685.4(BBS10):c.*87A>C rs138936387
NM_024685.4(BBS10):c.*891T>C rs886049844
NM_024685.4(BBS10):c.*930A>G rs886049843
NM_024685.4(BBS10):c.*955T>C rs141408782
NM_024685.4(BBS10):c.-48C>G rs752162179
NM_024685.4(BBS10):c.-4A>G rs886049853
NM_024685.4(BBS10):c.-66C>T rs886049854
NM_024685.4(BBS10):c.-71C>T rs569445445
NM_024685.4(BBS10):c.1003_1005TCA[1] (p.Ser336del) rs1555202655
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del) rs767108821
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala)
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr) rs886049850
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met) rs886049849
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser) rs756523417
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079
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.1974T>C (p.Tyr658=) rs376613074
NM_024685.4(BBS10):c.198-10T>C rs376497190
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val) rs1555202553
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser)
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.681C>G (p.Gly227=) rs886049851
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702

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