ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome by Counsyl

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629

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