List of variants in gene EMC1 reported as likely pathogenic for Cerebellar atrophy, visual impairment, and psychomotor retardation;

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_015047.3(EMC1):c.2712dup (p.His905fs)	rs781137936	0.00026
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)	rs869320625	0.00002
NM_015047.3(EMC1):c.2674G>T (p.Glu892Ter)	rs1258131141	0.00001
NM_015047.3(EMC1):c.2T>G (p.Met1Arg)	rs762503667	0.00001
NM_015047.3(EMC1):c.426C>A (p.Tyr142Ter)	rs370952454	0.00001
NM_015047.3(EMC1):c.787-1G>A	rs772560574	0.00001
NM_015047.3(EMC1):c.1412G>A (p.Gly471Glu)
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)	rs1553252938
NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln)	rs1572001567
NM_015047.3(EMC1):c.1978C>T (p.Arg660Ter)	rs201271494
NM_015047.3(EMC1):c.226C>G (p.Arg76Gly)	rs372022434
NM_015047.3(EMC1):c.2300G>T (p.Gly767Val)	rs766820627
NM_015047.3(EMC1):c.2802+2T>C	rs2536637199
NM_015047.3(EMC1):c.287-1G>A	rs751484278
NM_015047.3(EMC1):c.95+1G>T
NM_015047.3(EMC1):c.955-2A>C	rs2536775591

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