ClinVar Miner

List of variants studied for acromesomelic dysplasia 1, Maroteaux type by Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter) rs121912739 0.00001
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) rs1311857509 0.00001
NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys) rs1828087195
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) rs1828106198
NM_003995.4(NPR2):c.1215del (p.Gln406fs) rs1828107536
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter) rs749952755
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) rs751324720
NM_003995.4(NPR2):c.1887+2T>A rs1828226013
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter) rs1828356952
NM_003995.4(NPR2):c.2870G>A (p.Arg957His) rs1828565145
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly) rs1828609114
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del) rs1828637001
NM_003995.4(NPR2):c.328C>T (p.Arg110Cys) rs758478717
NM_003995.4(NPR2):c.329G>A (p.Arg110His) rs1827825533
NM_003995.4(NPR2):c.422G>A (p.Arg141His) rs1827828857
NM_003995.4(NPR2):c.661G>A (p.Gly221Arg) rs1440373349
NM_003995.4(NPR2):c.748del (p.Tyr250fs) rs1827867580
NM_003995.4(NPR2):c.866C>A (p.Ala289Asp) rs915823109
NM_003995.4(NPR2):c.873+3A>G rs1827874317

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