List of variants reported as uncertain significance for Bardet-Biedl syndrome 4 by Fulgent Genetics, Fulgent Genetics

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)	rs150706579	0.00029
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)	rs148843256	0.00019
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)	rs144696430	0.00009
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)	rs375558008	0.00006
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)	rs769886837	0.00006
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)	rs149577332	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.405+6T>C	rs926942882	0.00004
NM_033028.5(BBS4):c.986C>T (p.Ala329Val)	rs201987100	0.00004
NM_033028.5(BBS4):c.-3A>G	rs771900208	0.00003
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)	rs969384648	0.00003
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)	rs751716258	0.00003
NM_033028.5(BBS4):c.233G>A (p.Arg78His)	rs200396355	0.00003
NM_033028.5(BBS4):c.-44G>C	rs886051465	0.00002
NM_033028.5(BBS4):c.153C>T (p.Cys51=)	rs754709708	0.00002
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)	rs775034843	0.00002
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)	rs1419955498	0.00001
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)	rs569462424	0.00001
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)	rs914591602	0.00001
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro)	rs749034070	0.00001
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)	rs530223854	0.00001
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)	rs775955872	0.00001
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)	rs569388336	0.00001
NM_033028.5(BBS4):c.760G>A (p.Val254Ile)	rs532770420	0.00001
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)	rs748048479	0.00001
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)	rs199831925	0.00001
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)	rs750983167
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)	rs759315856
NM_033028.5(BBS4):c.1248G>A (p.Glu416=)	rs914591602
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)	rs753145823
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)	rs776847398
NM_033028.5(BBS4):c.1493del (p.Pro498fs)	rs777455492
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)	rs1463405501
NM_033028.5(BBS4):c.428T>A (p.Val143Asp)	rs2065601390
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)	rs781691906
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)	rs756915341

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