ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 15

Included ClinVar conditions (2):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_015910.7(WDPCP):c.-188G>C rs187916591 0.00436
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127 0.00141
NM_015910.7(WDPCP):c.*327G>A rs565212301 0.00084
NM_015910.7(WDPCP):c.-113C>A rs192963932 0.00050
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_015910.7(WDPCP):c.1916-18A>G rs201068492 0.00032
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp) rs201399904 0.00028
NM_015910.7(WDPCP):c.826-13T>C rs368439537 0.00024
NM_015910.7(WDPCP):c.1435+19T>C rs367947125 0.00013
NM_015910.7(WDPCP):c.385-12A>G rs528402153 0.00012
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=) rs367690400 0.00007
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp) rs771029060 0.00005
NM_015910.7(WDPCP):c.825+19T>G rs780109239 0.00005
NM_015910.7(WDPCP):c.634-12T>A rs779141559 0.00002
NM_015910.7(WDPCP):c.161-14C>T rs755586280 0.00001
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=) rs765502945 0.00001
NM_015910.7(WDPCP):c.210G>A (p.Ala70=) rs961809737 0.00001
NM_015910.7(WDPCP):c.2142T>C (p.Asn714=) rs769550847 0.00001
NM_015910.7(WDPCP):c.325-17T>C rs542348306 0.00001
NM_015910.7(WDPCP):c.654C>T (p.Pro218=) rs375737055 0.00001
NM_015910.7(WDPCP):c.123G>A (p.Leu41=) rs779322047
NM_015910.7(WDPCP):c.1625-12T>G rs1014640074
NM_015910.7(WDPCP):c.633+17A>T rs373456348

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