ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

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_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630

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