ClinVar Miner

List of variants in gene BBS4 reported by Preventiongenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_033028.5(BBS4):c.1451-45T>C rs75847960 0.08550
NM_033028.5(BBS4):c.-17C>T rs56368716 0.06844
NM_033028.4(BBS4):c.-38C>A rs11637927 0.04836
NM_033028.5(BBS4):c.405+17C>T rs80334351 0.02539
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_033028.5(BBS4):c.865-22G>C rs114672242 0.00459
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165 0.00458
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val) rs150706579 0.00029
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp) rs727503820 0.00013
NM_033028.5(BBS4):c.1158C>T (p.Gly386=) rs1057402744 0.00005
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp) rs143607861 0.00004
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr) rs370963556 0.00004
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr) rs760437306 0.00004
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val) rs760324204 0.00002
NM_033028.5(BBS4):c.12G>A (p.Glu4=) rs543735239 0.00002
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg) rs758120829 0.00002
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile) rs761814377 0.00002
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala) rs775034843 0.00002
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala) rs767070801 0.00001
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln) rs1050164962 0.00001
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232 0.00001
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln) rs775955872 0.00001
NM_033028.5(BBS4):c.1106+3A>G rs886038704
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del) rs759315856
NM_033028.5(BBS4):c.1249-35G>C rs117852179
NM_033028.5(BBS4):c.464A>C (p.Gln155Pro)
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys) rs756915341
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
NM_033028.5(BBS4):c.642+14_642+20del rs886038705
NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152

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