ClinVar Miner

List of variants reported as benign for Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_213649.2(SFXN4):c.472-24T>A rs2420494 0.98520
NM_213649.2(SFXN4):c.354A>G (p.Ala118=) rs2181118 0.98355
NM_213649.2(SFXN4):c.415-6C>T rs2275111 0.48143
NM_213649.2(SFXN4):c.258A>G (p.Gln86=) rs10749291 0.46610
NM_213649.2(SFXN4):c.361-42C>T rs2275112 0.29607
NM_213649.2(SFXN4):c.617-3C>T rs17668734 0.28961

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