ClinVar Miner

List of variants in gene combination LOC130062601, RAX reported as likely benign for Isolated microphthalmia 3

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_013435.3(RAX):c.729C>A (p.Ser243=) rs777929939 0.00139
NM_013435.3(RAX):c.745C>T (p.Leu249=) rs752919963 0.00027
NM_013435.3(RAX):c.783G>C (p.Pro261=) rs766154387 0.00020
NM_013435.3(RAX):c.657G>T (p.Ala219=) rs2070314960

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