ClinVar Miner

List of variants in gene BBS4 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys) rs561284402
NM_033028.5(BBS4):c.282A>G (p.Ala94=) rs370868102
NM_033028.5(BBS4):c.405+10G>C rs1216711857
NM_033028.5(BBS4):c.864+10C>T rs201979024

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