ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 1 by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076

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