ClinVar Miner

List of variants studied for Microcephaly 15, primary, autosomal recessive by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu) rs1057519087 0.00001
NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu) rs1057517689 0.00001
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs) rs2124782476
NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met) rs1057517688
NM_032793.5(MFSD2A):c.556+1G>A rs758953000
NM_032793.5(MFSD2A):c.750_753del (p.Cys251fs) rs1278119822

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