List of variants in gene CHN1 reported as pathogenic for Duane retraction syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001822.7(CHN1):c.378T>G (p.Ile126Met)	rs121912793	0.00001
NM_001822.7(CHN1):c.422C>T (p.Pro141Leu)	rs387906599
NM_001822.7(CHN1):c.427T>C (p.Tyr143His)	rs121912794
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe)	rs121912792
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)
NM_001822.7(CHN1):c.668C>T (p.Ala223Val)	rs121912795
NM_001822.7(CHN1):c.682G>A (p.Gly228Ser)	rs121912796
NM_001822.7(CHN1):c.754C>T (p.Pro252Ser)	rs387906600
NM_001822.7(CHN1):c.755C>A (p.Pro252Gln)	rs121912797
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys)	rs121912798

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