ClinVar Miner

List of variants in gene BBS12 reported as likely benign 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: 20
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HGVS dbSNP
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_001178007.1(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_001178007.1(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.2(BBS12):c.*187dupA rs386401352
NM_152618.2(BBS12):c.*613T>C rs74451613
NM_152618.2(BBS12):c.-124G>A rs309358
NM_152618.2(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.2(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.2(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.2(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.2(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.2(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.2(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.2(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.2(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.2(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.2(BBS12):c.378G>T (p.Glu126Asp) rs309369
NM_152618.2(BBS12):c.51A>G (p.Gln17=) rs17006077
NM_152618.2(BBS12):c.66C>T (p.Phe22=) rs150546366
NM_152618.2(BBS12):c.714T>G (p.Asn238Lys) rs17006082

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