ClinVar Miner

List of variants reported as likely benign for anemia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374

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