ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_015910.7(WDPCP):c.1915+13G>A rs992214
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.76+19G>T rs4777527
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_176824.3(BBS7):c.1890+16G>A rs1507994
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504

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