ClinVar Miner

List of variants in gene NPR2 reported as pathogenic for acromesomelic dysplasia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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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.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp) rs61758531 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter) rs768852284 0.00001
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter) rs767258629
NM_003995.4(NPR2):c.1092del (p.Ile364fs) rs879255257
NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter) rs1828094222
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) rs1828106198
NM_003995.4(NPR2):c.1215del (p.Gln406fs) rs1828107536
NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)
NM_003995.4(NPR2):c.125_126insTGGCG (p.Trp42fs) rs2132066161
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter) rs749952755
NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)
NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter) rs2132082975
NM_003995.4(NPR2):c.1758del (p.Ala585_Cys586insTer) rs1057519334
NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)
NM_003995.4(NPR2):c.1887+2T>A rs1828226013
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter) rs1828356952
NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter) rs2132090998
NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter) rs753472316
NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg) rs1057519333
NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)
NM_003995.4(NPR2):c.2527del (p.Ala843fs) rs1588068987
NM_003995.4(NPR2):c.343T>G (p.Trp115Gly) rs28931582
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser) rs2132066800
NM_003995.4(NPR2):c.507del (p.Tyr170fs) rs2132066904
NM_003995.4(NPR2):c.528T>A (p.Asp176Glu) rs28929479
NM_003995.4(NPR2):c.560T>A (p.Val187Asp) rs1057519335
NM_003995.4(NPR2):c.60del (p.Ala22fs) rs2132066003
NM_003995.4(NPR2):c.613C>T (p.Arg205Ter) rs1180840764
NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)
NM_003995.4(NPR2):c.748del (p.Tyr250fs) rs1827867580
NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)
NM_003995.4(NPR2):c.94C>A (p.Pro32Thr) rs28931581

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