ClinVar Miner

List of variants in gene BBS12 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_001178007.1(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_001178007.1(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_001178007.1(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_001178007.1(BBS12):c.1483_1484del (p.Glu495fs) rs587777802
NM_001178007.1(BBS12):c.2074dup (p.Thr692fs) rs1553941623
NM_001178007.1(BBS12):c.2132_*1del (p.Ter711Xaa)
NM_001178007.1(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_001178007.1(BBS12):c.337_339del (p.Val113del) rs587777801
NM_001178007.1(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_001178007.1(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_001178007.1(BBS12):c.568dup (p.Ser190fs) rs1553941279
NM_152618.3(BBS12):c.*185T>C rs545226235
NM_152618.3(BBS12):c.*187dup rs386401352
NM_152618.3(BBS12):c.*248G>A rs4833843
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*613T>C rs74451613
NM_152618.3(BBS12):c.*803_*804insT rs1332628916
NM_152618.3(BBS12):c.*804A>G rs151076630
NM_152618.3(BBS12):c.*811C>G rs309386
NM_152618.3(BBS12):c.*828A>C rs749924505
NM_152618.3(BBS12):c.*854C>A rs886059061
NM_152618.3(BBS12):c.*859T>A rs886059062
NM_152618.3(BBS12):c.-109G>T rs886059057
NM_152618.3(BBS12):c.-124G>A rs309358
NM_152618.3(BBS12):c.-152C>G rs886059056
NM_152618.3(BBS12):c.-157C>T rs886059055
NM_152618.3(BBS12):c.-61G>C rs59440868
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1024_1026AAT[1] (p.Asn343del) rs1553941372
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr) rs1553941373
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
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.1092del (p.Glu365fs) rs770218590
NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter) rs1560707645
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
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.1198G>A (p.Val400Met) rs771136797
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371
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)
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.1267del (p.Ile423fs)
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
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.1398C>T (p.Gly466=) rs2292493
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del) rs1553941469
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.1499T>C (p.Val500Ala) rs145392789
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.3(BBS12):c.1507G>A (p.Val503Met) rs374865012
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) rs770746493
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val) rs755314355
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del) rs1490785954
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter) rs1284876635
NM_152618.3(BBS12):c.1795del (p.Leu599fs) rs1553941540
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.1932_1934TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
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.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.298_300GAA[1] (p.Glu101del) rs1553941223
NM_152618.3(BBS12):c.29_31del (p.Lys10del) rs1553941158
NM_152618.3(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.3(BBS12):c.2dup (p.Met1fs) rs1560706193
NM_152618.3(BBS12):c.31_33AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.343_345del (p.Val115del) rs1553941232
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.416_419del (p.Asp139fs) rs1553941255
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.629_631ACA[1] (p.Asn211del) rs1553941287
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288
NM_152618.3(BBS12):c.652_653insCAA (p.Asn218_Ser219insThr) rs879118135
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.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166
NM_152618.3(BBS12):c.787dup (p.Tyr263fs) rs1553941312
NM_152618.3(BBS12):c.860_862AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328

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