List of variants reported as benign for MEGF8-related Carpenter syndrome by Genome-Nilou Lab

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001271938.2(MEGF8):c.1933+27A>G	rs874002	0.73512
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=)	rs28621009	0.14431
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu)	rs1206038	0.08528
NM_001271938.2(MEGF8):c.1934-7T>C	rs1206044	0.08176
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=)	rs61995685	0.04463
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=)	rs149155949	0.04455
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=)	rs149279834	0.00602
NM_001271938.2(MEGF8):c.7136+12C>T	rs375712517

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