ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Mendelics

Included ClinVar conditions (37):
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala) rs763473990
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_031885.4(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_198428.3(BBS9):c.1329+1606C>T rs6974593

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