ClinVar Miner

List of variants studied for Neurodegeneration with brain iron accumulation 4 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414

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