ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) rs1565287921
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189

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