ClinVar Miner

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

Included ClinVar conditions (3):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.*270A>T rs61758534 0.00042
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=) rs138254005 0.00025
NM_003995.4(NPR2):c.2840G>A (p.Arg947His) rs145008570 0.00012
NM_003995.4(NPR2):c.2987C>T (p.Ala996Val) rs143187530 0.00004
NM_003995.4(NPR2):c.2721G>A (p.Thr907=) rs758549770 0.00003
NM_003995.4(NPR2):c.*2C>T rs778618798 0.00001
NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr) rs369313283 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.3063G>C (p.Gly1021=) rs774392843 0.00001
NM_003995.4(NPR2):c.3078+16G>T rs760800240 0.00001
NM_003995.4(NPR2):c.2713G>T (p.Val905Leu) rs1357724443
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.2739G>A (p.Met913Ile) rs2132100462
NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)
NM_003995.4(NPR2):c.2773C>T (p.Arg925Cys)
NM_003995.4(NPR2):c.2777A>G (p.His926Arg) rs1470757644
NM_003995.4(NPR2):c.2807C>T (p.Ala936Val) rs2132100815
NM_003995.4(NPR2):c.2839C>T (p.Arg947Cys)
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) rs145008570
NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)
NM_003995.4(NPR2):c.2885C>G (p.Thr962Ser) rs201806512
NM_003995.4(NPR2):c.2888-18A>G
NM_003995.4(NPR2):c.2897G>C (p.Cys966Ser)
NM_003995.4(NPR2):c.2912G>T (p.Gly971Val)
NM_003995.4(NPR2):c.2923C>A (p.Pro975Thr) rs2132101777
NM_003995.4(NPR2):c.2985A>C (p.Gln995His)
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly) rs1828609114
NM_003995.4(NPR2):c.3086G>T (p.Gly1029Val)
NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys) rs1828636535
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del) rs1828637001
NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)

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