ClinVar Miner

List of variants in gene CALR3 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_145046.5(CALR3):c.381G>A (p.Gln127=) rs3810198 0.66498
NM_145046.5(CALR3):c.972C>T (p.Tyr324=) rs9305079 0.65389
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00118
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) rs143932873 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_145046.5(CALR3):c.378G>A (p.Ser126=) rs374869347 0.00011
NM_145046.5(CALR3):c.520C>A (p.Leu174Ile) rs143671909 0.00001
NM_145046.5(CALR3):c.484A>G (p.Arg162Gly) rs1172919657

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