ClinVar Miner

List of variants studied for Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 444
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.18T>C (p.Leu6=) rs2228580 0.28033
NM_003995.4(NPR2):c.1794C>T (p.Tyr598=) rs5812 0.27923
NM_003995.4(NPR2):c.668-4C>A rs61758517 0.00383
NM_003995.4(NPR2):c.873+13C>A rs61758520 0.00377
NM_003995.4(NPR2):c.2434T>C (p.Leu812=) rs115119353 0.00161
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_003995.4(NPR2):c.1351+10T>C rs199798952 0.00063
NM_003995.4(NPR2):c.1517G>A (p.Arg506His) rs114115939 0.00047
NM_003995.4(NPR2):c.2372+18G>A rs180773451 0.00041
NM_003995.4(NPR2):c.90G>A (p.Val30=) rs56036598 0.00041
NM_003995.4(NPR2):c.999C>T (p.Ile333=) rs28764009 0.00029
NM_003995.4(NPR2):c.697C>T (p.Leu233=) rs61758518 0.00028
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=) rs138254005 0.00025
NM_003995.4(NPR2):c.2643+10A>G rs200486126 0.00022
NM_003995.4(NPR2):c.1155C>T (p.Asn385=) rs757184535 0.00020
NM_003995.4(NPR2):c.1572C>T (p.Tyr524=) rs150393424 0.00017
NM_003995.4(NPR2):c.1629C>T (p.Phe543=) rs375740003 0.00016
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_003995.4(NPR2):c.2519+9T>C rs185385838 0.00016
NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln) rs146546770 0.00016
NM_003995.4(NPR2):c.2644G>A (p.Val882Ile) rs55700371 0.00015
NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp) rs114147262 0.00013
NM_003995.4(NPR2):c.1633-10C>A rs201550050 0.00012
NM_003995.4(NPR2):c.2840G>A (p.Arg947His) rs145008570 0.00012
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_003995.4(NPR2):c.2105T>A (p.Met702Lys) rs200129431 0.00010
NM_003995.4(NPR2):c.1262C>T (p.Thr421Met) rs140361919 0.00009
NM_003995.4(NPR2):c.2712+16G>C rs531827260 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.1815+3G>A rs542616645 0.00007
NM_003995.4(NPR2):c.1124-7G>A rs1008239421 0.00006
NM_003995.4(NPR2):c.1554G>A (p.Ser518=) rs190753852 0.00006
NM_003995.4(NPR2):c.1386C>T (p.Gly462=) rs148067831 0.00005
NM_003995.4(NPR2):c.2362C>T (p.Arg788Cys) rs761484215 0.00005
NM_003995.4(NPR2):c.2643+7G>A rs1024082991 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.2118C>T (p.Asp706=) rs559838429 0.00004
NM_003995.4(NPR2):c.2321C>T (p.Ala774Val) rs369154896 0.00004
NM_003995.4(NPR2):c.2460A>C (p.Thr820=) rs754928680 0.00004
NM_003995.4(NPR2):c.2713-11C>T rs577459245 0.00004
NM_003995.4(NPR2):c.2987C>T (p.Ala996Val) rs143187530 0.00004
NM_003995.4(NPR2):c.2988G>A (p.Ala996=) rs138711027 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.1236G>A (p.Ser412=) rs146712937 0.00003
NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln) rs766433291 0.00003
NM_003995.4(NPR2):c.1644C>T (p.Val548=) rs772510686 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.2721G>A (p.Thr907=) rs758549770 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.7C>T (p.Leu3=) rs1453764250 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.1711-9T>G rs777590147 0.00002
NM_003995.4(NPR2):c.2047+11C>T rs200583592 0.00002
NM_003995.4(NPR2):c.2048-16G>A rs747238989 0.00002
NM_003995.4(NPR2):c.2407C>T (p.Leu803=) rs1311519190 0.00002
NM_003995.4(NPR2):c.2519+3G>A rs749445629 0.00002
NM_003995.4(NPR2):c.2895C>A (p.Val965=) rs1011740301 0.00002
NM_003995.4(NPR2):c.342C>T (p.His114=) rs747247133 0.00002
NM_003995.4(NPR2):c.494G>A (p.Arg165His) rs781334893 0.00002
NM_003995.4(NPR2):c.649A>T (p.Ile217Phe) rs191155989 0.00002
NM_003995.4(NPR2):c.897A>T (p.Arg299=) rs1200672963 0.00002
NM_003995.4(NPR2):c.966T>C (p.Gly322=) rs746736321 0.00002
NM_003995.4(NPR2):c.1123+5T>A rs747319842 0.00001
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter) rs121912739 0.00001
NM_003995.4(NPR2):c.1198C>G (p.Leu400Val) rs758564951 0.00001
NM_003995.4(NPR2):c.1209G>A (p.Gly403=) rs1049826543 0.00001
NM_003995.4(NPR2):c.1215T>C (p.Phe405=) rs974678534 0.00001
NM_003995.4(NPR2):c.1227C>T (p.Ala409=) rs775340388 0.00001
NM_003995.4(NPR2):c.1368G>A (p.Leu456=) rs1480587869 0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_003995.4(NPR2):c.1478G>A (p.Arg493His) rs762074063 0.00001
NM_003995.4(NPR2):c.1575C>A (p.Gly525=) rs753525337 0.00001
NM_003995.4(NPR2):c.1650C>T (p.Ile550=) rs369022842 0.00001
NM_003995.4(NPR2):c.1684C>T (p.Arg562Trp) rs566096931 0.00001
NM_003995.4(NPR2):c.1813C>T (p.Gln605Ter) rs969576919 0.00001
NM_003995.4(NPR2):c.1887+11C>G rs761623564 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.2245C>T (p.Arg749Trp) rs61758531 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.2281C>T (p.Leu761=) rs1481862376 0.00001
NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp) rs1303913631 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_003995.4(NPR2):c.2337T>C (p.Phe779=) rs115369552 0.00001
NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter) rs768852284 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.2372+14A>T rs1367655962 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.2472G>A (p.Leu824=) rs1020460919 0.00001
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) rs1311857509 0.00001
NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr) rs369313283 0.00001
NM_003995.4(NPR2):c.2754C>A (p.Leu918=) rs372891937 0.00001
NM_003995.4(NPR2):c.2762G>A (p.Arg921Gln) rs770276670 0.00001
NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys) rs781398693 0.00001
NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys) rs370158184 0.00001
NM_003995.4(NPR2):c.2987-12C>T rs529155438 0.00001
NM_003995.4(NPR2):c.3078+16G>T rs760800240 0.00001
NM_003995.4(NPR2):c.36C>T (p.Ala12=) rs751273128 0.00001
NM_003995.4(NPR2):c.471C>T (p.His157=) rs140924915 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.873+8T>C rs949975649 0.00001
NM_003995.4(NPR2):c.988-6C>A rs752732223 0.00001
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NM_003995.4(NPR2):c.1026G>C (p.Leu342=)
NM_003995.4(NPR2):c.1038A>G (p.Glu346=) rs1828088519
NM_003995.4(NPR2):c.1055T>C (p.Ile352Thr)
NM_003995.4(NPR2):c.1059G>A (p.Gln353=)
NM_003995.4(NPR2):c.1073G>A (p.Arg358Gln)
NM_003995.4(NPR2):c.1076A>C (p.Glu359Ala)
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter) rs767258629
NM_003995.4(NPR2):c.1092del (p.Ile364fs) rs879255257
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.1123+18A>G
NM_003995.4(NPR2):c.1123+1G>C
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.1124-11T>G
NM_003995.4(NPR2):c.1124-20G>A
NM_003995.4(NPR2):c.1151A>G (p.Lys384Arg)
NM_003995.4(NPR2):c.1157A>G (p.Asn386Ser)
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) rs1828106198
NM_003995.4(NPR2):c.1168A>C (p.Thr390Pro)
NM_003995.4(NPR2):c.1173C>T (p.Asp391=)
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.1219-5T>C
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.1227C>G (p.Ala409=)
NM_003995.4(NPR2):c.1249C>G (p.Gln417Glu) rs796065356
NM_003995.4(NPR2):c.1251G>A (p.Gln417=)
NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)
NM_003995.4(NPR2):c.1263G>A (p.Thr421=)
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.1352-13A>G rs767710196
NM_003995.4(NPR2):c.1365C>A (p.Thr455=)
NM_003995.4(NPR2):c.1367T>C (p.Leu456Pro)
NM_003995.4(NPR2):c.1380T>A (p.Ala460=)
NM_003995.4(NPR2):c.1388C>T (p.Thr463Ile) rs2132080251
NM_003995.4(NPR2):c.1406T>C (p.Met469Thr)
NM_003995.4(NPR2):c.1413T>C (p.Gly471=)
NM_003995.4(NPR2):c.142G>T (p.Ala48Ser)
NM_003995.4(NPR2):c.1436+9T>G
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.1485C>G (p.Arg495=)
NM_003995.4(NPR2):c.1496T>C (p.Leu499Pro)
NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)
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.1551G>A (p.Leu517=)
NM_003995.4(NPR2):c.1557+17G>A
NM_003995.4(NPR2):c.1557+1G>A rs2132081744
NM_003995.4(NPR2):c.1557+6C>T
NM_003995.4(NPR2):c.1558-18T>C
NM_003995.4(NPR2):c.1558-3_1558del
NM_003995.4(NPR2):c.1558-6C>G
NM_003995.4(NPR2):c.155C>A (p.Ala52Asp) rs1827817304
NM_003995.4(NPR2):c.1560_1561delinsCT (p.Gly521Ter)
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.1614C>T (p.Ala538=)
NM_003995.4(NPR2):c.1622G>C (p.Gly541Ala)
NM_003995.4(NPR2):c.1632+10C>T
NM_003995.4(NPR2):c.1633-13C>T
NM_003995.4(NPR2):c.1655A>G (p.His552Arg)
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) rs751324720
NM_003995.4(NPR2):c.1687C>G (p.Gln563Glu)
NM_003995.4(NPR2):c.1688A>G (p.Gln563Arg)
NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter) rs2132082975
NM_003995.4(NPR2):c.170G>C (p.Gly57Ala)
NM_003995.4(NPR2):c.1710+15A>G
NM_003995.4(NPR2):c.1710+16_1710+19dup rs549843346
NM_003995.4(NPR2):c.1711-15G>T
NM_003995.4(NPR2):c.171C>A (p.Gly57=)
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.1776T>C (p.Ile592=)
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>A (p.Arg601Ser)
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.1815+14G>A
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.183C>T (p.Pro61=)
NM_003995.4(NPR2):c.1844T>G (p.Leu615Trp) rs1828223846
NM_003995.4(NPR2):c.1849T>C (p.Trp617Arg)
NM_003995.4(NPR2):c.1866A>T (p.Ser622=)
NM_003995.4(NPR2):c.1885A>G (p.Lys629Glu)
NM_003995.4(NPR2):c.1888-3C>A
NM_003995.4(NPR2):c.1923G>A (p.Ser641=)
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.1956G>T (p.Val652=) rs769661213
NM_003995.4(NPR2):c.1992C>G (p.Gly664=)
NM_003995.4(NPR2):c.2028C>A (p.Asp676Glu)
NM_003995.4(NPR2):c.2036C>T (p.Ala679Val)
NM_003995.4(NPR2):c.2047+12C>T
NM_003995.4(NPR2):c.2048-11C>T
NM_003995.4(NPR2):c.2048-15G>C
NM_003995.4(NPR2):c.2049G>T (p.Lys683Asn)
NM_003995.4(NPR2):c.2076C>T (p.Leu692=)
NM_003995.4(NPR2):c.2123A>G (p.Tyr708Cys)
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.2221C>T (p.Arg741Ter) rs2132090998
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.2268A>G (p.Gln756=)
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.2299C>T (p.Arg767Ter) rs753472316
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.2343G>A (p.Gln781=)
NM_003995.4(NPR2):c.2344A>G (p.Ile782Val)
NM_003995.4(NPR2):c.2360G>A (p.Arg787Gln) rs370822948
NM_003995.4(NPR2):c.2372+7G>A
NM_003995.4(NPR2):c.2373-17T>C
NM_003995.4(NPR2):c.2376G>A (p.Glu792=)
NM_003995.4(NPR2):c.2377G>A (p.Gly793Ser)
NM_003995.4(NPR2):c.2390T>C (p.Ile797Thr)
NM_003995.4(NPR2):c.2406G>C (p.Leu802=) rs1226263208
NM_003995.4(NPR2):c.2412C>T (p.Arg804=) rs2132092445
NM_003995.4(NPR2):c.2414T>A (p.Met805Lys)
NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)
NM_003995.4(NPR2):c.242C>A (p.Pro81Gln)
NM_003995.4(NPR2):c.2483G>A (p.Arg828His)
NM_003995.4(NPR2):c.2519+14C>T
NM_003995.4(NPR2):c.2520-19C>T
NM_003995.4(NPR2):c.2520-3T>C
NM_003995.4(NPR2):c.2520-7_2520-6del
NM_003995.4(NPR2):c.2527del (p.Ala843fs) rs1588068987
NM_003995.4(NPR2):c.2530G>A (p.Glu844Lys)
NM_003995.4(NPR2):c.2535G>A (p.Gln845=)
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.2577T>C (p.Ser859=)
NM_003995.4(NPR2):c.2629A>G (p.Ser877Gly) rs1012739989
NM_003995.4(NPR2):c.2634C>A (p.Thr878=) rs1588069140
NM_003995.4(NPR2):c.263A>C (p.Lys88Thr) rs1349881219
NM_003995.4(NPR2):c.2643+20G>A
NM_003995.4(NPR2):c.2643+7G>T
NM_003995.4(NPR2):c.2644-11A>C
NM_003995.4(NPR2):c.2644-14T>C
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.2712+11_2712+19del rs58759471
NM_003995.4(NPR2):c.2712+12G>A
NM_003995.4(NPR2):c.2712+9T>G
NM_003995.4(NPR2):c.2713-2A>T rs1563993649
NM_003995.4(NPR2):c.2731G>A (p.Ala911Thr)
NM_003995.4(NPR2):c.2732C>A (p.Ala911Asp)
NM_003995.4(NPR2):c.2738T>C (p.Met913Thr) rs2132100450
NM_003995.4(NPR2):c.2738dup (p.Met913fs)
NM_003995.4(NPR2):c.2739G>A (p.Met913Ile) rs2132100462
NM_003995.4(NPR2):c.2751C>A (p.Gly917=)
NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)
NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter) rs1554674642
NM_003995.4(NPR2):c.2764A>C (p.Asn922His)
NM_003995.4(NPR2):c.276C>T (p.Asp92=)
NM_003995.4(NPR2):c.2773C>T (p.Arg925Cys)
NM_003995.4(NPR2):c.2777A>G (p.His926Arg) rs1470757644
NM_003995.4(NPR2):c.2778T>C (p.His926=)
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys) rs760285654
NM_003995.4(NPR2):c.2795G>A (p.Arg932His)
NM_003995.4(NPR2):c.2807C>T (p.Ala936Val) rs2132100815
NM_003995.4(NPR2):c.282C>T (p.Asp94=)
NM_003995.4(NPR2):c.2835C>T (p.Arg945=)
NM_003995.4(NPR2):c.2839C>T (p.Arg947Cys)
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) rs145008570
NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter) rs1452208078
NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)
NM_003995.4(NPR2):c.2878G>A (p.Val960Ile)
NM_003995.4(NPR2):c.2885C>G (p.Thr962Ser) rs201806512
NM_003995.4(NPR2):c.2887+19C>T
NM_003995.4(NPR2):c.2887+8T>C
NM_003995.4(NPR2):c.2888-18A>G
NM_003995.4(NPR2):c.2897G>C (p.Cys966Ser)
NM_003995.4(NPR2):c.2901T>G (p.Ala967=)
NM_003995.4(NPR2):c.2912G>T (p.Gly971Val)
NM_003995.4(NPR2):c.2923C>A (p.Pro975Thr) rs2132101777
NM_003995.4(NPR2):c.2924C>A (p.Pro975His)
NM_003995.4(NPR2):c.2927G>A (p.Arg976His)
NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)
NM_003995.4(NPR2):c.2950G>A (p.Val984Met)
NM_003995.4(NPR2):c.295C>T (p.Pro99Ser)
NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_003995.4(NPR2):c.2985A>C (p.Gln995His)
NM_003995.4(NPR2):c.2986+10T>A
NM_003995.4(NPR2):c.2987-11A>G rs1041371919
NM_003995.4(NPR2):c.3015C>G (p.Thr1005=)
NM_003995.4(NPR2):c.3024_3042dup (p.Phe1015delinsProArgTer)
NM_003995.4(NPR2):c.3034C>T (p.Leu1012=) rs772856710
NM_003995.4(NPR2):c.305T>C (p.Val102Ala)
NM_003995.4(NPR2):c.3078+14A>G
NM_003995.4(NPR2):c.3078+17G>A rs1828616559
NM_003995.4(NPR2):c.3079-10C>A rs2132104467
NM_003995.4(NPR2):c.3086G>T (p.Gly1029Val)
NM_003995.4(NPR2):c.309C>T (p.Tyr103=)
NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=) rs985223475
NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys) rs1828636535
NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)
NM_003995.4(NPR2):c.3119G>T (p.Arg1040Leu)
NM_003995.4(NPR2):c.3131C>T (p.Pro1044Leu)
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.354C>G (p.Pro118=)
NM_003995.4(NPR2):c.361A>C (p.Thr121Pro)
NM_003995.4(NPR2):c.366G>A (p.Ala122=) rs549842668
NM_003995.4(NPR2):c.385T>G (p.Phe129Val)
NM_003995.4(NPR2):c.388T>G (p.Ser130Ala)
NM_003995.4(NPR2):c.390G>A (p.Ser130=) rs2132066726
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.477C>T (p.His159=) rs1554671925
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.507del (p.Tyr170fs) rs2132066904
NM_003995.4(NPR2):c.53G>A (p.Arg18His)
NM_003995.4(NPR2):c.542A>G (p.Tyr181Cys)
NM_003995.4(NPR2):c.546C>T (p.Phe182=)
NM_003995.4(NPR2):c.552C>T (p.Ile184=) rs771425603
NM_003995.4(NPR2):c.589A>G (p.Ser197Gly)
NM_003995.4(NPR2):c.607T>C (p.Tyr203His)
NM_003995.4(NPR2):c.60C>T (p.Pro20=)
NM_003995.4(NPR2):c.60del (p.Ala22fs) rs2132066003
NM_003995.4(NPR2):c.613C>T (p.Arg205Ter) rs1180840764
NM_003995.4(NPR2):c.632A>T (p.Glu211Val)
NM_003995.4(NPR2):c.636G>A (p.Gln212=)
NM_003995.4(NPR2):c.63G>A (p.Gly21=)
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.667+11C>A rs1477695310
NM_003995.4(NPR2):c.668-12A>G
NM_003995.4(NPR2):c.668T>G (p.Ile223Ser)
NM_003995.4(NPR2):c.681C>G (p.Cys227Trp) rs780884094
NM_003995.4(NPR2):c.681C>T (p.Cys227=)
NM_003995.4(NPR2):c.694A>G (p.Met232Val)
NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)
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.804T>C (p.Arg268=)
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.844C>T (p.Gln282Ter)
NM_003995.4(NPR2):c.84G>C (p.Ala28=)
NM_003995.4(NPR2):c.855C>G (p.Ala285=)
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.873+10G>C
NM_003995.4(NPR2):c.874-9C>G
NM_003995.4(NPR2):c.880T>C (p.Leu294=) rs1303946040
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.915G>A (p.Glu305=) rs773637376
NM_003995.4(NPR2):c.93G>A (p.Leu31=)
NM_003995.4(NPR2):c.949G>T (p.Ala317Ser)
NM_003995.4(NPR2):c.94C>A (p.Pro32Thr) rs28931581
NM_003995.4(NPR2):c.960C>T (p.Asp320=)
NM_003995.4(NPR2):c.965G>A (p.Gly322Asp)
NM_003995.4(NPR2):c.987+10T>A rs547211547
NM_003995.4(NPR2):c.987+10T>G
NM_003995.4(NPR2):c.987+1G>C rs1554672893
NM_003995.4(NPR2):c.987+9A>T
NM_003995.4(NPR2):c.988-4C>G
NM_003995.4(NPR2):c.988-7C>A rs555614149
NM_003995.4(NPR2):c.990G>A (p.Met330Ile)
NM_003995.4(NPR2):c.9G>A (p.Leu3=) rs1827810585

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