ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_024649.5(BBS1):c.48-2A>C rs764245266
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_033028.5(BBS4):c.206_209CTAT[1] (p.Ile70fs) rs775928735
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg) rs1578489760
NM_177965.4(C8orf37):c.130C>T (p.Gln44Ter) rs751922029
NM_177965.4(C8orf37):c.240del (p.Ser81fs) rs1587357327

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