List of variants in gene MFSD2A reported as pathogenic for autosomal recessive disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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