ClinVar Miner

List of variants in gene NPR2 reported as uncertain significance for Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.2644G>A (p.Val882Ile) rs55700371 0.00015
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_003995.4(NPR2):c.1262C>T (p.Thr421Met) rs140361919 0.00009
NM_003995.4(NPR2):c.953G>A (p.Arg318Gln) rs144940095 0.00009
NM_003995.4(NPR2):c.1621G>A (p.Gly541Ser) rs369386073 0.00008
NM_003995.4(NPR2):c.1072C>T (p.Arg358Trp) rs140870470 0.00007
NM_003995.4(NPR2):c.2362C>T (p.Arg788Cys) rs761484215 0.00005
NM_003995.4(NPR2):c.863A>G (p.Glu288Gly) rs765509984 0.00005
NM_003995.4(NPR2):c.1088G>A (p.Arg363Gln) rs554019454 0.00004
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu) rs202053091 0.00004
NM_003995.4(NPR2):c.2321C>T (p.Ala774Val) rs369154896 0.00004
NM_003995.4(NPR2):c.788G>A (p.Arg263His) rs139036657 0.00004
NM_003995.4(NPR2):c.935G>A (p.Arg312His) rs774537988 0.00004
NM_003995.4(NPR2):c.1070C>T (p.Thr357Ile) rs772725792 0.00003
NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln) rs766433291 0.00003
NM_003995.4(NPR2):c.1670G>A (p.Arg557His) rs766118843 0.00003
NM_003995.4(NPR2):c.1839C>G (p.Ile613Met) rs951956774 0.00003
NM_003995.4(NPR2):c.631G>A (p.Glu211Lys) rs201027721 0.00003
NM_003995.4(NPR2):c.725G>A (p.Arg242Lys) rs774099913 0.00003
NM_003995.4(NPR2):c.833G>A (p.Arg278His) rs114995755 0.00003
NM_003995.4(NPR2):c.952C>T (p.Arg318Trp) rs764711038 0.00003
NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr) rs138315850 0.00002
NM_003995.4(NPR2):c.2519+3G>A rs749445629 0.00002
NM_003995.4(NPR2):c.494G>A (p.Arg165His) rs781334893 0.00002
NM_003995.4(NPR2):c.1123+5T>A rs747319842 0.00001
NM_003995.4(NPR2):c.1198C>G (p.Leu400Val) rs758564951 0.00001
NM_003995.4(NPR2):c.1478G>A (p.Arg493His) rs762074063 0.00001
NM_003995.4(NPR2):c.1684C>T (p.Arg562Trp) rs566096931 0.00001
NM_003995.4(NPR2):c.193C>T (p.Arg65Trp) rs906456007 0.00001
NM_003995.4(NPR2):c.2150T>C (p.Ile717Thr) rs760946888 0.00001
NM_003995.4(NPR2):c.2158C>T (p.Arg720Cys) rs1319830472 0.00001
NM_003995.4(NPR2):c.2246G>A (p.Arg749Gln) rs567992526 0.00001
NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn) rs114207425 0.00001
NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp) rs1303913631 0.00001
NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp) rs771399009 0.00001
NM_003995.4(NPR2):c.2363G>A (p.Arg788His) rs764963912 0.00001
NM_003995.4(NPR2):c.2429A>G (p.Asn810Ser) rs764876586 0.00001
NM_003995.4(NPR2):c.2455C>T (p.Arg819Cys) rs766256429 0.00001
NM_003995.4(NPR2):c.652C>T (p.Arg218Trp) rs746376766 0.00001
NM_003995.4(NPR2):c.701A>G (p.His234Arg) rs770808236 0.00001
NM_003995.4(NPR2):c.815G>A (p.Arg272Gln) rs752154441 0.00001
NM_003995.4(NPR2):c.988-6C>A rs752732223 0.00001
NM_003995.4(NPR2):c.1055T>C (p.Ile352Thr)
NM_003995.4(NPR2):c.1073G>A (p.Arg358Gln)
NM_003995.4(NPR2):c.1076A>C (p.Glu359Ala)
NM_003995.4(NPR2):c.1093G>C (p.Val365Leu)
NM_003995.4(NPR2):c.1103T>C (p.Met368Thr)
NM_003995.4(NPR2):c.1112G>A (p.Arg371Gln)
NM_003995.4(NPR2):c.1122C>T (p.His374=)
NM_003995.4(NPR2):c.1123G>A (p.Gly375Ser) rs1828095529
NM_003995.4(NPR2):c.1123G>C (p.Gly375Arg) rs1828095529
NM_003995.4(NPR2):c.1151A>G (p.Lys384Arg)
NM_003995.4(NPR2):c.1157A>G (p.Asn386Ser)
NM_003995.4(NPR2):c.1168A>C (p.Thr390Pro)
NM_003995.4(NPR2):c.1190T>C (p.Met397Thr)
NM_003995.4(NPR2):c.1191G>A (p.Met397Ile)
NM_003995.4(NPR2):c.11C>T (p.Pro4Leu)
NM_003995.4(NPR2):c.1219-3C>T
NM_003995.4(NPR2):c.1223C>A (p.Ala408Glu)
NM_003995.4(NPR2):c.1223C>T (p.Ala408Val) rs2132079334
NM_003995.4(NPR2):c.1225G>A (p.Ala409Thr) rs1828117923
NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu) rs796065356
NM_003995.4(NPR2):c.1267C>T (p.Arg423Trp)
NM_003995.4(NPR2):c.127C>G (p.Pro43Ala) rs1258275667
NM_003995.4(NPR2):c.1289G>A (p.Gly430Glu)
NM_003995.4(NPR2):c.1294C>T (p.Pro432Ser)
NM_003995.4(NPR2):c.1301C>T (p.Ser434Leu)
NM_003995.4(NPR2):c.1313C>A (p.Pro438His) rs778410447
NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu) rs778410447
NM_003995.4(NPR2):c.1324G>A (p.Asp442Asn) rs1331619875
NM_003995.4(NPR2):c.1351+8T>G
NM_003995.4(NPR2):c.1352-12T>A
NM_003995.4(NPR2):c.1367T>C (p.Leu456Pro)
NM_003995.4(NPR2):c.1388C>T (p.Thr463Ile) rs2132080251
NM_003995.4(NPR2):c.1406T>C (p.Met469Thr)
NM_003995.4(NPR2):c.142G>T (p.Ala48Ser)
NM_003995.4(NPR2):c.1462G>A (p.Ala488Thr)
NM_003995.4(NPR2):c.1469T>C (p.Met490Thr)
NM_003995.4(NPR2):c.1484G>T (p.Arg495Leu)
NM_003995.4(NPR2):c.1496T>C (p.Leu499Pro)
NM_003995.4(NPR2):c.1516C>T (p.Arg506Cys)
NM_003995.4(NPR2):c.1532C>T (p.Ala511Val)
NM_003995.4(NPR2):c.1533A>G (p.Ala511=)
NM_003995.4(NPR2):c.1540C>T (p.Arg514Cys)
NM_003995.4(NPR2):c.1547C>T (p.Thr516Ile) rs1828173261
NM_003995.4(NPR2):c.1557+6C>T
NM_003995.4(NPR2):c.155C>A (p.Ala52Asp) rs1827817304
NM_003995.4(NPR2):c.1573G>A (p.Gly525Ser)
NM_003995.4(NPR2):c.1577C>T (p.Ser526Leu)
NM_003995.4(NPR2):c.1585A>G (p.Thr529Ala)
NM_003995.4(NPR2):c.1589C>A (p.Ala530Asp) rs1828184008
NM_003995.4(NPR2):c.1622G>C (p.Gly541Ala)
NM_003995.4(NPR2):c.1655A>G (p.His552Arg)
NM_003995.4(NPR2):c.1687C>G (p.Gln563Glu)
NM_003995.4(NPR2):c.1688A>G (p.Gln563Arg)
NM_003995.4(NPR2):c.170G>C (p.Gly57Ala)
NM_003995.4(NPR2):c.1739C>A (p.Thr580Asn)
NM_003995.4(NPR2):c.1741C>T (p.Arg581Cys)
NM_003995.4(NPR2):c.1753G>A (p.Ala585Thr)
NM_003995.4(NPR2):c.1775T>C (p.Ile592Thr)
NM_003995.4(NPR2):c.1780A>G (p.Ile594Val) rs2132083748
NM_003995.4(NPR2):c.1784T>C (p.Val595Ala)
NM_003995.4(NPR2):c.1801C>T (p.Arg601Cys) rs1563988849
NM_003995.4(NPR2):c.1802G>A (p.Arg601His) rs180950551
NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu) rs180950551
NM_003995.4(NPR2):c.1816-13T>C
NM_003995.4(NPR2):c.1819A>T (p.Ile607Phe)
NM_003995.4(NPR2):c.1825G>A (p.Glu609Lys)
NM_003995.4(NPR2):c.1844T>G (p.Leu615Trp) rs1828223846
NM_003995.4(NPR2):c.1849T>C (p.Trp617Arg)
NM_003995.4(NPR2):c.1885A>G (p.Lys629Glu)
NM_003995.4(NPR2):c.1888-3C>A
NM_003995.4(NPR2):c.1924C>T (p.His642Tyr) rs2132089495
NM_003995.4(NPR2):c.1931G>A (p.Ser644Asn)
NM_003995.4(NPR2):c.1937A>G (p.Lys646Arg)
NM_003995.4(NPR2):c.1946A>G (p.Asn649Ser)
NM_003995.4(NPR2):c.1946A>T (p.Asn649Ile) rs761833821
NM_003995.4(NPR2):c.1948T>G (p.Cys650Gly) rs2132089545
NM_003995.4(NPR2):c.194G>A (p.Arg65Gln) rs1161458774
NM_003995.4(NPR2):c.1951G>A (p.Val651Met)
NM_003995.4(NPR2):c.1954G>A (p.Val652Met)
NM_003995.4(NPR2):c.1956G>A (p.Val652=)
NM_003995.4(NPR2):c.2028C>A (p.Asp676Glu)
NM_003995.4(NPR2):c.2036C>T (p.Ala679Val)
NM_003995.4(NPR2):c.2049G>T (p.Lys683Asn)
NM_003995.4(NPR2):c.2155C>G (p.Leu719Val)
NM_003995.4(NPR2):c.2159G>A (p.Arg720His)
NM_003995.4(NPR2):c.2163T>A (p.Ser721Arg)
NM_003995.4(NPR2):c.2206A>T (p.Ile736Phe)
NM_003995.4(NPR2):c.2226T>A (p.Asn742Lys)
NM_003995.4(NPR2):c.2234G>A (p.Arg745Gln)
NM_003995.4(NPR2):c.2260C>T (p.Arg754Trp) rs371968545
NM_003995.4(NPR2):c.2279A>G (p.Glu760Gly) rs539647497
NM_003995.4(NPR2):c.2293A>G (p.Met765Val) rs1828369816
NM_003995.4(NPR2):c.2296G>C (p.Glu766Gln)
NM_003995.4(NPR2):c.2300G>A (p.Arg767Gln)
NM_003995.4(NPR2):c.2339G>T (p.Gly780Val)
NM_003995.4(NPR2):c.2341C>A (p.Gln781Lys)
NM_003995.4(NPR2):c.2344A>G (p.Ile782Val)
NM_003995.4(NPR2):c.2360G>A (p.Arg787Gln) rs370822948
NM_003995.4(NPR2):c.2377G>A (p.Gly793Ser)
NM_003995.4(NPR2):c.2390T>C (p.Ile797Thr)
NM_003995.4(NPR2):c.2414T>A (p.Met805Lys)
NM_003995.4(NPR2):c.242C>A (p.Pro81Gln)
NM_003995.4(NPR2):c.2483G>A (p.Arg828His)
NM_003995.4(NPR2):c.2520-3T>C
NM_003995.4(NPR2):c.2530G>A (p.Glu844Lys)
NM_003995.4(NPR2):c.2543G>A (p.Arg848Gln)
NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser) rs1245545691
NM_003995.4(NPR2):c.2572G>A (p.Asp858Asn) rs1477979334
NM_003995.4(NPR2):c.2629A>G (p.Ser877Gly) rs1012739989
NM_003995.4(NPR2):c.263A>C (p.Lys88Thr) rs1349881219
NM_003995.4(NPR2):c.264G>T (p.Lys88Asn) rs2132066445
NM_003995.4(NPR2):c.2681A>C (p.Asp894Ala) rs2132095429
NM_003995.4(NPR2):c.2711A>G (p.Lys904Arg)
NM_003995.4(NPR2):c.295C>T (p.Pro99Ser)
NM_003995.4(NPR2):c.305T>C (p.Val102Ala)
NM_003995.4(NPR2):c.328C>T (p.Arg110Cys) rs758478717
NM_003995.4(NPR2):c.331T>G (p.Phe111Val)
NM_003995.4(NPR2):c.338C>T (p.Ser113Phe)
NM_003995.4(NPR2):c.361A>C (p.Thr121Pro)
NM_003995.4(NPR2):c.385T>G (p.Phe129Val)
NM_003995.4(NPR2):c.388T>G (p.Ser130Ala)
NM_003995.4(NPR2):c.404A>G (p.His135Arg)
NM_003995.4(NPR2):c.407A>T (p.Tyr136Phe)
NM_003995.4(NPR2):c.477C>G (p.His159Gln)
NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)
NM_003995.4(NPR2):c.491C>G (p.Ala164Gly)
NM_003995.4(NPR2):c.493C>T (p.Arg165Cys)
NM_003995.4(NPR2):c.53G>A (p.Arg18His)
NM_003995.4(NPR2):c.542A>G (p.Tyr181Cys)
NM_003995.4(NPR2):c.589A>G (p.Ser197Gly)
NM_003995.4(NPR2):c.607T>C (p.Tyr203His)
NM_003995.4(NPR2):c.632A>T (p.Glu211Val)
NM_003995.4(NPR2):c.652C>G (p.Arg218Gly)
NM_003995.4(NPR2):c.65C>T (p.Ala22Val) rs1827813477
NM_003995.4(NPR2):c.661G>A (p.Gly221Arg) rs1440373349
NM_003995.4(NPR2):c.664C>T (p.Arg222Cys)
NM_003995.4(NPR2):c.668T>G (p.Ile223Ser)
NM_003995.4(NPR2):c.681C>G (p.Cys227Trp) rs780884094
NM_003995.4(NPR2):c.694A>G (p.Met232Val)
NM_003995.4(NPR2):c.740A>G (p.Asn247Ser)
NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys) rs1243598210
NM_003995.4(NPR2):c.753CTT[1] (p.Phe253del) rs767114653
NM_003995.4(NPR2):c.760T>C (p.Tyr254His)
NM_003995.4(NPR2):c.787C>T (p.Arg263Cys)
NM_003995.4(NPR2):c.788G>C (p.Arg263Pro) rs139036657
NM_003995.4(NPR2):c.802C>T (p.Arg268Cys)
NM_003995.4(NPR2):c.803G>A (p.Arg268His)
NM_003995.4(NPR2):c.814C>T (p.Arg272Trp)
NM_003995.4(NPR2):c.826G>A (p.Asp276Asn)
NM_003995.4(NPR2):c.826G>C (p.Asp276His)
NM_003995.4(NPR2):c.832C>T (p.Arg278Cys)
NM_003995.4(NPR2):c.839G>A (p.Arg280Gln)
NM_003995.4(NPR2):c.85G>A (p.Val29Met) rs2132066072
NM_003995.4(NPR2):c.863A>C (p.Glu288Ala) rs765509984
NM_003995.4(NPR2):c.866C>T (p.Ala289Val)
NM_003995.4(NPR2):c.886A>G (p.Ile296Val)
NM_003995.4(NPR2):c.890C>T (p.Thr297Met)
NM_003995.4(NPR2):c.896G>A (p.Arg299Gln)
NM_003995.4(NPR2):c.949G>T (p.Ala317Ser)
NM_003995.4(NPR2):c.94C>A (p.Pro32Thr) rs28931581
NM_003995.4(NPR2):c.965G>A (p.Gly322Asp)
NM_003995.4(NPR2):c.990G>A (p.Met330Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.