ClinVar Miner

List of variants reported as likely pathogenic for acromesomelic dysplasia 1, Maroteaux type by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	rs1311857509	0.00001
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)	rs751324720
NM_003995.4(NPR2):c.277C>A (p.Pro93Thr)	rs773934765

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