ClinVar Miner

List of variants in gene BBS12 studied for Bardet-Biedl syndrome

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Gene type:
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Total variants: 129
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HGVS dbSNP
NC_000004.12:g.(?_122741883)_(122744035_?)del
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_152618.3(BBS12):c.*187dup rs386401352
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756
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.1063C>T (p.Arg355Ter) rs121918327
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266
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.1185G>A (p.Leu395=) rs377611257
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg)
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.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
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.1292G>A (p.Arg431Gln)
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile)
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757
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.1382A>G (p.Asn461Ser)
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
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.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
NM_152618.3(BBS12):c.1407C>G (p.Val469=)
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.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.1577dup (p.Leu526fs)
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
NM_152618.3(BBS12):c.1653T>G (p.His551Gln)
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser)
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp)
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.3(BBS12):c.1891_1892TC[1] (p.Pro632fs)
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2056_2059ACAG[1] (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly)
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala)
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa) rs1578492553
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
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.422dup (p.Met141fs)
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu)
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser)
NM_152618.3(BBS12):c.925_926del (p.Met309fs)
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)

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