ClinVar Miner

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

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Total variants: 8
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GRCh37/hg19 11q13.2(chr11:66290130-66305022)
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364

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