List of variants reported as benign for Malan overgrowth syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=)	rs201174259	0.00238
NM_001365902.3(NFIX):c.1078+20G>A	rs202139307	0.00078
NM_001365902.3(NFIX):c.698-12C>T	rs372409455	0.00061
NM_001365902.3(NFIX):c.1284G>A (p.Pro428=)	rs761114067	0.00031
NM_001365902.3(NFIX):c.1026G>A (p.Pro342=)	rs774838479	0.00013
NM_001365902.3(NFIX):c.1236G>A (p.Ser412=)	rs367955217	0.00011
NM_001365902.3(NFIX):c.1408G>A (p.Ala470Thr)	rs372257657	0.00011
NM_001365902.3(NFIX):c.1078+19C>T	rs377622313	0.00006
NM_001365902.3(NFIX):c.28-15G>A
NM_001365902.3(NFIX):c.28-326G>A
NM_001365902.3(NFIX):c.336C>T (p.Gly112=)
NM_001365902.3(NFIX):c.559+23del
NM_001365902.3(NFIX):c.564C>T (p.Ser188=)
NM_001365902.3(NFIX):c.621C>T (p.Asn207=)
NM_001365902.3(NFIX):c.622+8C>G
NM_001365902.3(NFIX):c.818+9_818+16del
NM_001365902.3(NFIX):c.933G>A (p.Gly311=)
NM_001365902.3(NFIX):c.942C>T (p.Asn314=)
NM_001365902.3(NFIX):c.956-3del

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