ClinVar Miner

List of variants reported as uncertain significance for Microcephaly 15, primary, autosomal recessive

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032793.5(MFSD2A):c.874G>A (p.Gly292Ser) rs201045061 0.00003
NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His)
NM_032793.5(MFSD2A):c.1414A>C (p.Met472Leu)
NM_032793.5(MFSD2A):c.228+8G>A
NM_032793.5(MFSD2A):c.379G>C (p.Val127Leu) rs144708707
NM_032793.5(MFSD2A):c.446T>C (p.Leu149Pro)
NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile) rs1060499570

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