ClinVar Miner

List of variants in gene NPR2, SPAG8 studied for Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome

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Total variants: 68
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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.2840G>A (p.Arg947His) rs145008570 0.00012
NM_003995.4(NPR2):c.2713-11C>T rs577459245 0.00004
NM_003995.4(NPR2):c.2987C>T (p.Ala996Val) rs143187530 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.2720C>T (p.Thr907Met) rs1311857509 0.00001
NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr) rs369313283 0.00001
NM_003995.4(NPR2):c.2754C>A (p.Leu918=) rs372891937 0.00001
NM_003995.4(NPR2):c.2762G>A (p.Arg921Gln) rs770276670 0.00001
NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys) rs781398693 0.00001
NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys) rs370158184 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.2123A>G (p.Tyr708Cys)
NM_003995.4(NPR2):c.2713-2A>T rs1563993649
NM_003995.4(NPR2):c.2731G>A (p.Ala911Thr)
NM_003995.4(NPR2):c.2732C>A (p.Ala911Asp)
NM_003995.4(NPR2):c.2738T>C (p.Met913Thr) rs2132100450
NM_003995.4(NPR2):c.2738dup (p.Met913fs)
NM_003995.4(NPR2):c.2739G>A (p.Met913Ile) rs2132100462
NM_003995.4(NPR2):c.2751C>A (p.Gly917=)
NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)
NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter) rs1554674642
NM_003995.4(NPR2):c.2764A>C (p.Asn922His)
NM_003995.4(NPR2):c.2773C>T (p.Arg925Cys)
NM_003995.4(NPR2):c.2777A>G (p.His926Arg) rs1470757644
NM_003995.4(NPR2):c.2778T>C (p.His926=)
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys) rs760285654
NM_003995.4(NPR2):c.2795G>A (p.Arg932His)
NM_003995.4(NPR2):c.2807C>T (p.Ala936Val) rs2132100815
NM_003995.4(NPR2):c.2835C>T (p.Arg945=)
NM_003995.4(NPR2):c.2839C>T (p.Arg947Cys)
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) rs145008570
NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter) rs1452208078
NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)
NM_003995.4(NPR2):c.2878G>A (p.Val960Ile)
NM_003995.4(NPR2):c.2885C>G (p.Thr962Ser) rs201806512
NM_003995.4(NPR2):c.2887+19C>T
NM_003995.4(NPR2):c.2887+8T>C
NM_003995.4(NPR2):c.2888-18A>G
NM_003995.4(NPR2):c.2897G>C (p.Cys966Ser)
NM_003995.4(NPR2):c.2901T>G (p.Ala967=)
NM_003995.4(NPR2):c.2912G>T (p.Gly971Val)
NM_003995.4(NPR2):c.2923C>A (p.Pro975Thr) rs2132101777
NM_003995.4(NPR2):c.2924C>A (p.Pro975His)
NM_003995.4(NPR2):c.2927G>A (p.Arg976His)
NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)
NM_003995.4(NPR2):c.2950G>A (p.Val984Met)
NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_003995.4(NPR2):c.2985A>C (p.Gln995His)
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.3024_3042dup (p.Phe1015delinsProArgTer)
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.3086G>T (p.Gly1029Val)
NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=) rs985223475
NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys) rs1828636535
NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)
NM_003995.4(NPR2):c.3119G>T (p.Arg1040Leu)
NM_003995.4(NPR2):c.3131C>T (p.Pro1044Leu)

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