List of variants reported as benign for Cerebellar atrophy, visual impairment, and psychomotor retardation; by Genome-Nilou Lab

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015047.3(EMC1):c.381-5T>C	rs710865	0.48756
NM_015047.3(EMC1):c.1034G>C (p.Ser345Thr)	rs709683	0.47589
NM_015047.3(EMC1):c.954+16A>G	rs2273046	0.30636
NM_015047.3(EMC1):c.2377-15C>G	rs2073106	0.30468
NM_015047.3(EMC1):c.2376+26A>G	rs2073105	0.23688
NM_015047.3(EMC1):c.1090-17G>C	rs2073104	0.21025
NM_015047.3(EMC1):c.1040G>A (p.Ser347Asn)	rs709682	0.18119
NM_015047.3(EMC1):c.696G>A (p.Glu232=)	rs12084825	0.13852

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