ClinVar Miner

List of variants in gene CIB2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006383.4(CIB2):c.477C>T (p.Asp159=) rs10456 0.18777
NM_006383.4(CIB2):c.393G>A (p.Thr131=) rs34057735 0.04831
NM_006383.4(CIB2):c.303G>A (p.Ser101=) rs77370542 0.02451
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) rs141932061 0.00279
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln) rs200546031 0.00070
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848 0.00012
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_006383.4(CIB2):c.141G>A (p.Arg47=) rs199524336 0.00001
NM_006383.4(CIB2):c.557G>A (p.Arg186Gln) rs1281648597

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