List of variants 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)	rs370158184	0.00001
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.2713-2A>T	rs1563993649
NM_003995.4(NPR2):c.987+1G>C	rs1554672893

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