List of variants reported as uncertain significance for Bardet-Biedl syndrome 1 by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)	rs138744839	0.00115
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)	rs142648652	0.00006
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)	rs951217740	0.00005
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	rs758139447	0.00002
NM_024649.5(BBS1):c.831-3C>G	rs113994179

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