ClinVar Miner

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

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.2513+13G>A rs148073215
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374

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