ClinVar Miner

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

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_152618.3(BBS12):c.*248G>A rs4833843
NM_152618.3(BBS12):c.*811C>G rs309386
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082

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