ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 12 by Counsyl

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_152618.3(BBS12):c.*803_*804insT rs1332628916 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) rs770746493 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val) rs755314355 0.00001
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*854C>A rs886059061
NM_152618.3(BBS12):c.1024AAT[1] (p.Asn343del) rs1553941372
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr) rs1553941373
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
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.1507G>A (p.Val503Met) rs374865012
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.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.2074dup (p.Thr692fs) rs1553941623
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del) rs1553941223
NM_152618.3(BBS12):c.29_31del (p.Lys10del) rs1553941158
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.343_345del (p.Val115del) rs1553941232
NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del) rs1553941287
NM_152618.3(BBS12):c.652_653insCAA (p.Lys217_Asn218insThr) rs879118135
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524

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