ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_024649.5(BBS1):c.*219A>G
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) rs199692416
NM_024649.5(BBS1):c.1181-6C>T
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072
NM_024649.5(BBS1):c.1395C>T (p.Arg465=)
NM_024649.5(BBS1):c.1474-8C>T rs398124402
NM_024649.5(BBS1):c.1485T>C (p.Leu495=)
NM_024649.5(BBS1):c.1533C>T (p.Thr511=)
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)
NM_024649.5(BBS1):c.1695+9C>T
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.1773G>A (p.Ala591=)
NM_024649.5(BBS1):c.738C>T (p.Ser246=)
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027
NM_024649.5(BBS1):c.750C>T (p.Phe250=)
NM_024649.5(BBS1):c.798C>G (p.Ala266=)
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)
NM_024649.5(BBS1):c.951+7C>A
NM_024649.5(BBS1):c.952-7C>G
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482

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