List of variants in gene MFSD2A studied for Microcephaly 15, primary, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_032793.5(MFSD2A):c.93+16C>A	rs189000715	0.00134
NM_032793.5(MFSD2A):c.874G>A (p.Gly292Ser)	rs201045061	0.00003
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.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.476C>T (p.Thr159Met)	rs1057517688
NM_032793.5(MFSD2A):c.556+1G>A	rs758953000
NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile)	rs1060499570
NM_032793.5(MFSD2A):c.750_753del (p.Cys251fs)	rs1278119822

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