COPRS[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2313833	NM_018405.4(COPRS):c.400C>G (p.Gln134Glu)	COPRS (Q122E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076263	NM_018405.4(COPRS):c.377A>G (p.Asn126Ser)	COPRS (N114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329994	NM_018405.4(COPRS):c.373G>A (p.Gly125Arg)	COPRS (G125R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313723	NM_018405.4(COPRS):c.316G>A (p.Glu106Lys)	COPRS (E106K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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