List of variants in gene combination NPR2, SPAG8 reported as likely pathogenic for acromesomelic dysplasia

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	rs1311857509	0.00001
NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)	rs370158184	0.00001
NM_003995.4(NPR2):c.2713-2A>T	rs1563993649
NM_003995.4(NPR2):c.2870G>A (p.Arg957His)	rs1828565145

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