ClinVar Miner

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

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
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.1092del (p.Glu365fs) rs770218590
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1267del (p.Ile423fs)
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757
NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs) rs587777802
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
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.337_339del (p.Val113del) rs587777801
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.787dup (p.Tyr263fs) rs1553941312
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328

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