ClinVar Miner

List of variants in gene BBS12 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_001178007.1(BBS12):c.1320_1326dup (p.Gln443Cysfs) rs1553941433
NM_001178007.1(BBS12):c.1372dup (p.Thr458Asnfs) rs1195341481
NM_001178007.1(BBS12):c.424dup (p.Asp142Glyfs) rs1553941258
NM_001178007.1(BBS12):c.49dup (p.Gln17Profs) rs756061536
NM_001178007.1(BBS12):c.568dup (p.Ser190Phefs) rs1553941279
NM_152618.2(BBS12):c.1009_1010delGT (p.Val337Cysfs) rs1553941369
NM_152618.2(BBS12):c.1082delG (p.Gly361Valfs) rs1057517193
NM_152618.2(BBS12):c.1140_1141delAG (p.Val381Ilefs) rs1553941391
NM_152618.2(BBS12):c.1287_1290delTAAG (p.Lys430Glyfs) rs766741204
NM_152618.2(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757
NM_152618.2(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.2(BBS12):c.1749C>G (p.Tyr583Ter) rs1284876635
NM_152618.2(BBS12):c.1795delC (p.Leu599Phefs) rs1553941540
NM_152618.2(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.2(BBS12):c.1949delC (p.Ser650Terfs) rs1444062882
NM_152618.2(BBS12):c.1A>C (p.Met1Leu) rs750366365
NM_152618.2(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152618.2(BBS12):c.2060_2063delACAG (p.Asp687Valfs)
NM_152618.2(BBS12):c.265_266delTT (p.Leu89Valfs) rs1397714772
NM_152618.2(BBS12):c.270delT (p.Val92Leufs) rs1173504533
NM_152618.2(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.2(BBS12):c.416_419delACTG (p.Asp139Valfs) rs1553941255
NM_152618.2(BBS12):c.640C>T (p.Arg214Ter) rs745448288
NM_152618.2(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.2(BBS12):c.682_683insT (p.Gln228Leufs) rs770872200
NM_152618.2(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.1151del (p.Ser384Thrfs) rs1553941404

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