List of variants reported as uncertain significance for Bardet-Biedl syndrome 1 by New York Genome Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.24T>C (p.Asp8=)	rs55848325	0.00267
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)	rs138744839	0.00115
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)	rs141528309	0.00096
NM_024649.5(BBS1):c.200G>A (p.Arg67His)	rs145718265	0.00014
NM_024649.5(BBS1):c.1474-8C>T	rs398124402	0.00013
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)	rs755782127	0.00006
NM_024649.5(BBS1):c.1339+163G>A
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)

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