List of variants reported as benign for Arrhinia with choanal atresia and microphthalmia syndrome by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_015295.3(SMCHD1):c.4967-15G>T	rs300291	0.98262
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile)	rs2276092	0.71166
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=)	rs635132	0.60549
NM_015295.3(SMCHD1):c.3425+37C>T	rs8094260	0.33927
NM_015295.3(SMCHD1):c.1843-17T>A	rs8090988	0.32584
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=)	rs12327477	0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=)	rs2304859	0.28776
NM_015295.3(SMCHD1):c.3277-42_3277-39dup	rs10638660	0.28675
NM_015295.3(SMCHD1):c.5476+10A>G	rs3213926	0.28248
NM_015295.3(SMCHD1):c.5548-43_5548-40del	rs35853884	0.24521
NM_015295.3(SMCHD1):c.2338+32A>G	rs62084229	0.19102
NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)	rs2430853
NM_015295.3(SMCHD1):c.5052+33dup	rs3214732

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