List of variants in gene combination BBS1, ZDHHC24 reported as pathogenic for Bardet-Biedl syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	rs121917777	0.00012
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)	rs200116631	0.00003
NM_024649.5(BBS1):c.724-1G>C	rs748523268	0.00003
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)	rs183771956	0.00002
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)	rs1160669210	0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	rs1014835928	0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)	rs745656125	0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)	rs775769424	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)	rs773632109	0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs)	rs587777830	0.00001
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)	rs1057517143	0.00001
NM_024649.5(BBS1):c.951+1G>A	rs746875134	0.00001
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)	rs869025205
NM_024649.5(BBS1):c.1214_1215insSVA
NM_024649.5(BBS1):c.1243del (p.Val415fs)	rs1590772920
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.1340-1G>T	rs1555049893
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)	rs1565289799
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)	rs863224782
NM_024649.5(BBS1):c.1642del (p.Leu548fs)	rs1555050404
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)	rs1434577015
NM_024649.5(BBS1):c.724-8_726del	rs1856202628
NM_024649.5(BBS1):c.752del (p.Leu251fs)	rs2134784600
NM_024649.5(BBS1):c.830+350_1110+217del
NM_024649.5(BBS1):c.830+554_1110+1052del
NM_024649.5(BBS1):c.831-3C>G	rs113994179
NM_024649.5(BBS1):c.887del (p.Ile296fs)	rs794727006
NM_024649.5(BBS1):c.951+1G>T	rs746875134
NM_024649.5(BBS1):c.951+58C>T	rs1856346961
NM_024649.5(BBS1):c.952-1G>C	rs1057516661
NM_024649.5(BBS1):c.981del (p.Ala328fs)	rs1057516371

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