List of variants in gene combination NPR2, SPAG8 reported as likely benign for acromesomelic dysplasia 1, Maroteaux type

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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: 22

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HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)	rs138254005	0.00025
NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)	rs146546770	0.00016
NM_003995.4(NPR2):c.2713-11C>T	rs577459245	0.00004
NM_003995.4(NPR2):c.2988G>A (p.Ala996=)	rs138711027	0.00004
NM_003995.4(NPR2):c.2721G>A (p.Thr907=)	rs758549770	0.00003
NM_003995.4(NPR2):c.2895C>A (p.Val965=)	rs1011740301	0.00002
NM_003995.4(NPR2):c.2754C>A (p.Leu918=)	rs372891937	0.00001
NM_003995.4(NPR2):c.2987-12C>T	rs529155438	0.00001
NM_003995.4(NPR2):c.3078+16G>T	rs760800240	0.00001
NM_003995.4(NPR2):c.2751C>A (p.Gly917=)
NM_003995.4(NPR2):c.2778T>C (p.His926=)
NM_003995.4(NPR2):c.2835C>T (p.Arg945=)
NM_003995.4(NPR2):c.2887+19C>T
NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)
NM_003995.4(NPR2):c.2986+10T>A
NM_003995.4(NPR2):c.2987-11A>G	rs1041371919
NM_003995.4(NPR2):c.3015C>G (p.Thr1005=)
NM_003995.4(NPR2):c.3034C>T (p.Leu1012=)	rs772856710
NM_003995.4(NPR2):c.3078+14A>G
NM_003995.4(NPR2):c.3078+17G>A	rs1828616559
NM_003995.4(NPR2):c.3079-10C>A	rs2132104467
NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=)	rs985223475

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