ClinVar Miner

List of variants in gene combination CCDC40, GAA reported as benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805 0.35335

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