ClinVar Miner

List of variants studied for Optic atrophy 12 by Genome-Nilou Lab

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	rs11553521	0.77624
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	rs11080572	0.67857
NM_006796.3(AFG3L2):c.752+6C>T	rs8097342	0.67671
NM_006796.3(AFG3L2):c.*28G>C	rs1129115	0.28281
NM_006796.3(AFG3L2):c.753-55T>C	rs7407640

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