ClinVar Miner

List of variants reported for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.5599G>A (p.Val1867Met) rs774835487 0.00001
NM_007118.4(TRIO):c.731A>G (p.Lys244Arg)
NM_007118.4(TRIO):c.7780G>C (p.Ala2594Pro)
NM_007118.4(TRIO):c.8683C>T (p.His2895Tyr)

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