List of variants reported as benign for Singleton-Merten syndrome 2 by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014314.4(RIGI):c.2400A>C (p.Val800=)	rs3205166	0.34612
NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu)	rs17217280	0.10366
NM_014314.4(RIGI):c.2337+11G>A	rs45589431	0.10215
NM_014314.4(RIGI):c.1059C>T (p.Asn353=)	rs45471397	0.00207
NM_014314.4(RIGI):c.1376-21dup	rs71302893
NM_014314.4(RIGI):c.1481-21dup	rs71504272

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