List of variants in gene LMAN2L studied for autosomal recessive non-syndromic intellectual disability

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile)	rs753445500	0.00002
NM_030805.4(LMAN2L):c.187+4A>C	rs2078596924	0.00001
NM_030805.4(LMAN2L):c.785-273A>G	rs1469575298	0.00001
NM_030805.4(LMAN2L):c.158G>A (p.Arg53Gln)	rs869320632
NM_030805.4(LMAN2L):c.424+11C>T	rs2078470068
NM_030805.4(LMAN2L):c.424+1G>A
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=)	rs1028008100
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)	rs773649192
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val)	rs2077918865

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