ClinVar Miner

List of variants in gene BBS12 reported as uncertain significance for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_152618.3(BBS12):c.*185T>C rs545226235
NM_152618.3(BBS12):c.*425C>T
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*582G>T
NM_152618.3(BBS12):c.*803_*804insT rs1332628916
NM_152618.3(BBS12):c.*804A>G rs151076630
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.*860G>A
NM_152618.3(BBS12):c.*907T>C
NM_152618.3(BBS12):c.-102C>T
NM_152618.3(BBS12):c.-109G>T rs886059057
NM_152618.3(BBS12):c.-152C>G rs886059056
NM_152618.3(BBS12):c.-157C>T rs886059055
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.1055A>C (p.Gln352Pro) rs767068756
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590
NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter) rs1560707645
NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser)
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266
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.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1227G>A (p.Val409=)
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.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser)
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del) rs1553941469
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.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.1660G>T (p.Ala554Ser)
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del) rs1490785954
NM_152618.3(BBS12):c.1698A>G (p.Ser566=)
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp)
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
NM_152618.3(BBS12):c.1932_1934TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
NM_152618.3(BBS12):c.2016G>A (p.Ala672=)
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly)
NM_152618.3(BBS12):c.2074dup (p.Thr692fs) rs1553941623
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa) rs1578492553
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
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.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.344T>C (p.Val115Ala)
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654
NM_152618.3(BBS12):c.629_631ACA[1] (p.Asn211del) rs1553941287
NM_152618.3(BBS12):c.652_653insCAA (p.Asn218_Ser219insThr) rs879118135
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala)
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166
NM_152618.3(BBS12):c.860_862AAG[1] (p.Glu288del) rs745504524

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