ClinVar Miner

List of variants reported as uncertain significance by MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.544T>C (p.Trp182Arg) rs1565390925
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279

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