ClinVar Miner

List of variants in gene BBS10 reported as uncertain significance for Bardet-Biedl syndrome 10

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Total variants: 143
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HGVS dbSNP gnomAD frequency
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.765G>A (p.Met255Ile) rs139658279 0.00072
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
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.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
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.2003A>G (p.Asn668Ser) rs142140276 0.00018
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.1595G>A (p.Arg532Lys) rs142297424 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.1381G>A (p.Gly461Ser) rs767717128 0.00009
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 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.1514C>T (p.Pro505Leu) rs56867176 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_024685.4(BBS10):c.*1164A>G rs922929416 0.00004
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp) rs144402299 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1882A>G (p.Met628Val) rs760505134 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 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.1075C>G (p.Gln359Glu) rs767572725 0.00003
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile) rs780966013 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_024685.4(BBS10):c.1164C>T (p.Ser388=) rs1484593364 0.00002
NM_024685.4(BBS10):c.1230T>G (p.His410Gln) rs1447555059 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.198-10T>C rs376497190 0.00002
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024685.4(BBS10):c.788C>T (p.Thr263Ile) rs746826888 0.00002
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.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) rs1460652135 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) rs750994616 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser) rs1453771610 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.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_024685.4(BBS10):c.85G>T (p.Val29Leu) rs752267054 0.00001
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly) rs759385121 0.00001
NM_024685.4(BBS10):c.955G>C (p.Val319Leu) rs769233464 0.00001
NM_024685.4(BBS10):c.*1145A>C rs886049841
NM_024685.4(BBS10):c.*1275A>C rs886049837
NM_024685.4(BBS10):c.*48G>C rs1951752530
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.1003TCA[1] (p.Ser336del) rs1555202655
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val) rs11109474
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln) rs1951762690
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1203A>T (p.Gly401=) rs1951762391
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del) rs767108821
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp) rs763473990
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala) rs763473990
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe) rs1429011304
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.1530A>G (p.Thr510=) rs1951758841
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.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1696A>C (p.Asn566His) rs144402299
NM_024685.4(BBS10):c.1780A>G (p.Met594Val) rs1951756219
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser) rs756523417
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1865A>G (p.His622Arg) rs1453149575
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.2030G>T (p.Gly677Val) rs1555202553
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2157A>G (p.Ser719=) rs1951752945
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.397C>T (p.Leu133Phe) rs750446869
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.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del) rs1318745309
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.681C>G (p.Gly227=) rs886049851
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
NM_024685.4(BBS10):c.969A>G (p.Ala323=) rs1951764520

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