List of variants reported as likely pathogenic for Bardet-Biedl syndrome 1 by Counsyl

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024649.5(BBS1):c.724-1G>C	rs748523268	0.00003
NM_024649.5(BBS1):c.479+2T>G	rs1353098253	0.00002
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	rs1014835928	0.00001
NM_024649.5(BBS1):c.48-2A>C	rs764245266	0.00001
NM_024649.5(BBS1):c.518+1G>A	rs771517209	0.00001
NM_024649.5(BBS1):c.952-1G>A	rs1057516661	0.00001
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)	rs1057516533
NM_024649.5(BBS1):c.124+1G>C	rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)	rs1060503690
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.1340-1G>T	rs1555049893
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)	rs1555049933
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)	rs1057516901
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)	rs1555050268
NM_024649.5(BBS1):c.158dup (p.Leu54fs)	rs1313590454
NM_024649.5(BBS1):c.159+2T>A	rs1057516507
NM_024649.5(BBS1):c.1609-2A>T	rs1555050394
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)	rs773632109
NM_024649.5(BBS1):c.17dup (p.Ser7fs)	rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs)	rs1057517007
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)	rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)	rs1306821707
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	rs1057516451
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)	rs1555046611
NM_024649.5(BBS1):c.433-2A>G	rs1555046748
NM_024649.5(BBS1):c.47+2T>C	rs1182864166
NM_024649.5(BBS1):c.48-1G>T	rs751753112
NM_024649.5(BBS1):c.480-1G>C	rs1057516933
NM_024649.5(BBS1):c.519-2A>G	rs1057516502
NM_024649.5(BBS1):c.786del (p.Ala264fs)	rs1057516330
NM_024649.5(BBS1):c.831-2A>G	rs1057517332
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)	rs1057516427
NM_024649.5(BBS1):c.951+1G>A	rs746875134
NM_024649.5(BBS1):c.981del (p.Ala328fs)	rs1057516371

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