ClinVar Miner

List of variants in gene CAD reported as uncertain significance by Gharavi Laboratory, Columbia University

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.1730T>C (p.Leu577Pro) rs1219263474 0.00001
NM_004341.5(CAD):c.3884G>A (p.Arg1295His) rs1211373184 0.00001
NM_004341.5(CAD):c.1830del (p.Asn611fs) rs1558531590
NM_004341.5(CAD):c.3359A>T (p.Glu1120Val) rs1558538125
NM_004341.5(CAD):c.367_368delinsTT (p.Glu123Leu) rs1558527573
NM_004341.5(CAD):c.43C>T (p.Gln15Ter) rs1558524067
NM_004341.5(CAD):c.5394+2T>C rs1558543576
NM_004341.5(CAD):c.6149G>A (p.Gly2050Glu) rs1232626604
NM_004341.5(CAD):c.739C>A (p.Pro247Thr) rs1558528340
NM_004341.5(CAD):c.812A>G (p.Tyr271Cys) rs1558528838

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