ClinVar Miner

List of variants reported as likely benign for Neurodegeneration with brain iron accumulation 4

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_031448.6(C19orf12):c.*1020del rs200081218 0.03050
NM_031448.6(C19orf12):c.*1413G>A rs116160531 0.01090
NM_031448.6(C19orf12):c.*2526del rs111753946 0.01054
NM_031448.6(C19orf12):c.*3399_*3400insA rs113192583 0.00945
NM_031448.6(C19orf12):c.*2784C>G rs147421675 0.00894
NM_031448.6(C19orf12):c.*1826G>T rs192407663 0.00461
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_031448.6(C19orf12):c.*3304T>C rs547761506 0.00405
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_001256047.1(C19orf12):c.*3833T>A rs112945856 0.00056
NM_031448.6(C19orf12):c.*1557T>C rs116963085 0.00047
NM_031448.6(C19orf12):c.-11+149G>C rs367660476 0.00034
NM_031448.6(C19orf12):c.*1854G>A rs565402320 0.00026
NM_031448.6(C19orf12):c.*1536T>C rs182215624 0.00013
NM_031448.6(C19orf12):c.216G>A (p.Pro72=) rs202054484 0.00006
NM_031448.6(C19orf12):c.*2692C>T rs569552156 0.00002
NM_031448.6(C19orf12):c.*2310C>T rs370293548 0.00001
NM_031448.6(C19orf12):c.*1021dup rs758272383

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