List of variants reported as benign for Bardet-Biedl syndrome 1 by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)	rs7665271	0.03441
NM_152618.3(BBS12):c.1209G>A (p.Val403=)	rs17006092	0.03229
NM_152618.3(BBS12):c.1062G>C (p.Val354=)	rs34296401	0.03153
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)	rs73688160	0.01649
NM_031885.5(BBS2):c.1413A>C (p.Val471=)	rs35294865	0.01415
NM_198428.3(BBS9):c.2299-20A>C	rs17727583	0.01007
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)	rs34218557	0.00872
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	rs17006082	0.00860
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)	rs142863601	0.00738
NM_176824.3(BBS7):c.1512-7A>T	rs115987385	0.00545
NM_031885.5(BBS2):c.805-20A>G	rs41280892	0.00423
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)	rs146752751	0.00076

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