ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_018848.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875

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