ClinVar Miner

List of variants studied for Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_213649.2(SFXN4):c.414+1G>A rs1380193482 0.00001
NM_213649.2(SFXN4):c.471+1G>A rs367932369

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