List of variants reported as likely benign for Bardet-Biedl syndrome 1 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1413A>C (p.Val471=)	rs35294865	0.01415
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)	rs61734468	0.00905
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	rs17006082	0.00860
NM_176824.3(BBS7):c.1512-7A>T	rs115987385	0.00545
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)	rs150553044	0.00194
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	rs139658279	0.00072
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)	rs544657165	0.00001

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