ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.952-1G>A rs1057516661 0.00001
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
NM_024649.5(BBS1):c.1076G>C (p.Arg359Pro)
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1110+1G>C rs2134797993
NM_024649.5(BBS1):c.1110+2T>C
NM_024649.5(BBS1):c.1110+2T>G rs1565286223
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1180+1G>T
NM_024649.5(BBS1):c.1181-1G>C
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1339+1G>A
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1474-1G>A rs2134836650
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.830+2T>A
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)

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