ClinVar Miner

List of variants in gene NPR2 reported as likely pathogenic for Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.1123+1G>C
NM_003995.4(NPR2):c.1557+1G>A rs2132081744
NM_003995.4(NPR2):c.1558-3_1558del
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) rs751324720
NM_003995.4(NPR2):c.987+1G>C rs1554672893

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