ClinVar Miner

List of variants reported as uncertain significance for acromesomelic dysplasia 1, Maroteaux type by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (3):

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome; Short stature with nonspecific skeletal abnormalities

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.2644G>A (p.Val882Ile)	rs55700371	0.00015
NM_003995.4(NPR2):c.494G>A (p.Arg165His)	rs781334893	0.00002

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