List of variants in gene MFSD8 reported as likely pathogenic by GeneDx

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

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001371596.2(MFSD8):c.864-1G>A	rs571950296	0.00003
NM_001371596.2(MFSD8):c.1036del (p.Val346fs)	rs1439582451	0.00001
NM_001371596.2(MFSD8):c.1325C>A (p.Ser442Ter)	rs953995815	0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)	rs1275962600	0.00001
NM_001371596.2(MFSD8):c.154+2dup	rs1422791271	0.00001
NM_001371596.2(MFSD8):c.442A>G (p.Asn148Asp)	rs796052742	0.00001
NM_001371596.2(MFSD8):c.1351-2A>G	rs1057518388
NM_001371596.2(MFSD8):c.553+1G>A	rs1553950197
NM_001371596.2(MFSD8):c.590del (p.Gly197fs)	rs776253867
NM_001371596.2(MFSD8):c.864-2A>G	rs2546084011

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