ClinVar Miner

List of variants in gene BBS10 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 0.00013
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
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.1514C>T (p.Pro505Leu) rs56867176 0.00006
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
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.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu) rs767572725 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 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.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 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.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
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.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
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.648C>T (p.Asp216=) rs748037727
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654

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