ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2632+9C>A rs148654647

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