ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP
NC_000004.12:g.(?_122741883)_(122744035_?)del
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
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.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.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
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.1502C>T (p.Thr501Met) rs138011813
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.1577dup (p.Leu526fs)
NM_152618.3(BBS12):c.1891_1892TC[1] (p.Pro632fs)
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.422dup (p.Met141fs)
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
NM_152618.3(BBS12):c.925_926del (p.Met309fs)

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