ClinVar Miner

List of variants reported as uncertain significance for acromesomelic dysplasia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 419
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
NM_003995.4(NPR2):c.1351+10T>C rs199798952 0.00063
NM_003995.4(NPR2):c.*270A>T rs61758534 0.00042
NM_003995.4(NPR2):c.90G>A (p.Val30=) rs56036598 0.00041
NM_003995.4(NPR2):c.697C>T (p.Leu233=) rs61758518 0.00028
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) rs150974461 0.00026
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=) rs138254005 0.00025
NM_003995.4(NPR2):c.1572C>T (p.Tyr524=) rs150393424 0.00017
NM_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_000557.5(GDF5):c.-30C>A rs375024998 0.00016
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_003995.4(NPR2):c.2644G>A (p.Val882Ile) rs55700371 0.00015
NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp) rs201034260 0.00014
NM_001203.3(BMPR1B):c.838G>A (p.Asp280Asn) rs551370449 0.00014
NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly) rs201289177 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_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) rs376819253 0.00010
NM_003995.4(NPR2):c.1262C>T (p.Thr421Met) rs140361919 0.00009
NM_003995.4(NPR2):c.336C>G (p.Ala112=) rs533386555 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_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp) rs780280883 0.00006
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_000557.5(GDF5):c.-220C>T rs886056643 0.00004
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
NM_001203.3(BMPR1B):c.580C>G (p.Leu194Val) rs757843329 0.00004
NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu) rs142696562 0.00004
NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu) rs762320529 0.00004
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.2460A>C (p.Thr820=) rs754928680 0.00004
NM_003995.4(NPR2):c.2987C>T (p.Ala996Val) rs143187530 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.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.833G>A (p.Arg278His) rs114995755 0.00003
NM_003995.4(NPR2):c.952C>T (p.Arg318Trp) rs764711038 0.00003
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964 0.00002
NM_001203.3(BMPR1B):c.734C>A (p.Thr245Lys) rs751532146 0.00002
NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val) rs755942515 0.00002
NM_001203.3(BMPR1B):c.907A>C (p.Lys303Gln) rs370428276 0.00002
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.2519+3G>A rs749445629 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_000557.5(GDF5):c.*166G>A rs569761315 0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) rs367914931 0.00001
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) rs758630897 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) rs768978933 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
NM_001203.3(BMPR1B):c.1081A>G (p.Thr361Ala) rs1179983257 0.00001
NM_001203.3(BMPR1B):c.1100C>G (p.Pro367Arg) rs1284054241 0.00001
NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val) rs1464900722 0.00001
NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys) rs561948192 0.00001
NM_001203.3(BMPR1B):c.370C>T (p.His124Tyr) rs759803347 0.00001
NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr) rs561117066 0.00001
NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val) rs778170724 0.00001
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) rs200198618 0.00001
NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) rs757312834 0.00001
NM_003995.4(NPR2):c.*2C>T rs778618798 0.00001
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.1437-3C>T rs1181538946 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.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.2246G>A (p.Arg749Gln) rs567992526 0.00001
NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn) rs114207425 0.00001
NM_003995.4(NPR2):c.2261G>A (p.Arg754Gln) rs763488261 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.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.2723T>C (p.Ile908Thr) rs369313283 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.3063G>C (p.Gly1021=) rs774392843 0.00001
NM_003995.4(NPR2):c.3078+16G>T rs760800240 0.00001
NM_003995.4(NPR2):c.312T>C (p.Pro104=) rs886063910 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.853G>A (p.Ala285Thr) rs886063911 0.00001
NM_003995.4(NPR2):c.988-6C>A rs752732223 0.00001
NC_000004.11:g.(?_96069879)_(96075824_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NM_000557.5(GDF5):c.-97T>C rs960967052
NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup) rs760180391
NM_000557.5(GDF5):c.1272C>G (p.Tyr424Ter) rs778394508
NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.358C>T (p.Arg120Trp)
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372
NM_000557.5(GDF5):c.50T>C (p.Leu17Pro)
NM_001203.3(BMPR1B):c.-17-52823C>T
NM_001203.3(BMPR1B):c.1012A>G (p.Ile338Val)
NM_001203.3(BMPR1B):c.1023G>C (p.Lys341Asn)
NM_001203.3(BMPR1B):c.1024A>G (p.Lys342Glu)
NM_001203.3(BMPR1B):c.1093G>A (p.Asp365Asn)
NM_001203.3(BMPR1B):c.1094A>G (p.Asp365Gly)
NM_001203.3(BMPR1B):c.1097T>C (p.Ile366Thr)
NM_001203.3(BMPR1B):c.1099C>A (p.Pro367Thr)
NM_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp) rs2149325883
NM_001203.3(BMPR1B):c.1171C>T (p.His391Tyr)
NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr)
NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly) rs1190618723
NM_001203.3(BMPR1B):c.1238G>C (p.Arg413Thr)
NM_001203.3(BMPR1B):c.1239A>T (p.Arg413Ser)
NM_001203.3(BMPR1B):c.1252+410A>G
NM_001203.3(BMPR1B):c.1273C>T (p.Leu425Phe)
NM_001203.3(BMPR1B):c.1339A>C (p.Lys447Gln)
NM_001203.3(BMPR1B):c.1367G>T (p.Arg456Leu)
NM_001203.3(BMPR1B):c.1385G>T (p.Cys462Phe)
NM_001203.3(BMPR1B):c.1393C>T (p.Gln465Ter)
NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu)
NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala)
NM_001203.3(BMPR1B):c.1411A>G (p.Thr471Ala) rs752827445
NM_001203.3(BMPR1B):c.1498A>T (p.Ile500Phe)
NM_001203.3(BMPR1B):c.244C>T (p.Arg82Trp) rs2149277836
NM_001203.3(BMPR1B):c.247-3T>C
NM_001203.3(BMPR1B):c.247G>A (p.Asp83Asn)
NM_001203.3(BMPR1B):c.247G>C (p.Asp83His)
NM_001203.3(BMPR1B):c.247G>T (p.Asp83Tyr)
NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile)
NM_001203.3(BMPR1B):c.289A>T (p.Thr97Ser)
NM_001203.3(BMPR1B):c.290C>G (p.Thr97Arg)
NM_001203.3(BMPR1B):c.418G>C (p.Val140Leu)
NM_001203.3(BMPR1B):c.419T>G (p.Val140Gly)
NM_001203.3(BMPR1B):c.425T>C (p.Ile142Thr)
NM_001203.3(BMPR1B):c.440A>G (p.Tyr147Cys)
NM_001203.3(BMPR1B):c.464C>G (p.Thr155Ser)
NM_001203.3(BMPR1B):c.469C>T (p.Pro157Ser) rs779609471
NM_001203.3(BMPR1B):c.470C>G (p.Pro157Arg) rs2149292391
NM_001203.3(BMPR1B):c.470C>T (p.Pro157Leu) rs2149292391
NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) rs1579119447
NM_001203.3(BMPR1B):c.47A>G (p.Glu16Gly)
NM_001203.3(BMPR1B):c.487T>A (p.Leu163Ile) rs1438025940
NM_001203.3(BMPR1B):c.496G>A (p.Asp166Asn)
NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly) rs781670372
NM_001203.3(BMPR1B):c.503C>G (p.Thr168Ser)
NM_001203.3(BMPR1B):c.524C>G (p.Ser175Cys)
NM_001203.3(BMPR1B):c.524C>T (p.Ser175Phe)
NM_001203.3(BMPR1B):c.527T>C (p.Leu176Pro)
NM_001203.3(BMPR1B):c.556T>A (p.Ser186Thr)
NM_001203.3(BMPR1B):c.57G>C (p.Glu19Asp)
NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln)
NM_001203.3(BMPR1B):c.585+10_585+12del
NM_001203.3(BMPR1B):c.616A>G (p.Met206Val)
NM_001203.3(BMPR1B):c.621_622delinsCC (p.Lys208Gln)
NM_001203.3(BMPR1B):c.622A>G (p.Lys208Glu)
NM_001203.3(BMPR1B):c.67C>G (p.Pro23Ala)
NM_001203.3(BMPR1B):c.686C>T (p.Ala229Val)
NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala) rs754365645
NM_001203.3(BMPR1B):c.724T>C (p.Phe242Leu) rs761226009
NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) rs761226009
NM_001203.3(BMPR1B):c.725T>A (p.Phe242Tyr)
NM_001203.3(BMPR1B):c.725T>G (p.Phe242Cys)
NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala)
NM_001203.3(BMPR1B):c.737A>T (p.Glu246Val) rs779737736
NM_001203.3(BMPR1B):c.739A>G (p.Ile247Val)
NM_001203.3(BMPR1B):c.745C>A (p.Gln249Lys)
NM_001203.3(BMPR1B):c.746A>T (p.Gln249Leu) rs187868598
NM_001203.3(BMPR1B):c.759G>A (p.Met253Ile)
NM_001203.3(BMPR1B):c.779G>T (p.Gly260Val)
NM_001203.3(BMPR1B):c.790G>T (p.Ala264Ser)
NM_001203.3(BMPR1B):c.836C>T (p.Thr279Ile)
NM_001203.3(BMPR1B):c.840C>G (p.Asp280Glu)
NM_001203.3(BMPR1B):c.842A>G (p.Tyr281Cys)
NM_001203.3(BMPR1B):c.851A>C (p.Asn284Thr)
NM_001203.3(BMPR1B):c.875A>G (p.Lys292Arg)
NM_001203.3(BMPR1B):c.899C>T (p.Ser300Leu)
NM_001203.3(BMPR1B):c.928A>G (p.Ser310Gly)
NM_001203.3(BMPR1B):c.979G>A (p.Ala327Thr)
NM_001203.3(BMPR1B):c.997C>G (p.Leu333Val)
NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys) rs1828087195
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.1117T>C (p.Tyr373His)
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.1163G>A (p.Arg388Gln) rs1828106198
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.130C>T (p.Arg44Trp)
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.1329G>T (p.Leu443Phe)
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.1403T>G (p.Ile468Ser) rs886063912
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.1815+2T>C rs1563988864
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.190C>T (p.Leu64=) rs1588050194
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.208G>A (p.Glu70Lys)
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.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.2411G>A (p.Arg804His) rs2132092435
NM_003995.4(NPR2):c.2414T>A (p.Met805Lys)
NM_003995.4(NPR2):c.242C>A (p.Pro81Gln)
NM_003995.4(NPR2):c.2463G>A (p.Gln821=) rs1828391242
NM_003995.4(NPR2):c.2483G>A (p.Arg828His)
NM_003995.4(NPR2):c.2520-3T>C
NM_003995.4(NPR2):c.2523A>G (p.Ser841=) rs758756963
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.2648T>G (p.Val883Gly) rs2132095372
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.2713G>T (p.Val905Leu) rs1357724443
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.2739G>A (p.Met913Ile) rs2132100462
NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)
NM_003995.4(NPR2):c.2764A>C (p.Asn922His)
NM_003995.4(NPR2):c.2773C>T (p.Arg925Cys)
NM_003995.4(NPR2):c.2777A>G (p.His926Arg) rs1470757644
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.2839C>T (p.Arg947Cys)
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) rs145008570
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.2888-18A>G
NM_003995.4(NPR2):c.2897G>C (p.Cys966Ser)
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.2950G>A (p.Val984Met)
NM_003995.4(NPR2):c.295C>T (p.Pro99Ser)
NM_003995.4(NPR2):c.2985A>C (p.Gln995His)
NM_003995.4(NPR2):c.3024_3042dup (p.Phe1015delinsProArgTer)
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly) rs1828609114
NM_003995.4(NPR2):c.305T>C (p.Val102Ala)
NM_003995.4(NPR2):c.3086G>T (p.Gly1029Val)
NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys) rs1828636535
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del) rs1828637001
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.329G>A (p.Arg110His) rs1827825533
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.422G>A (p.Arg141His) rs1827828857
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser) rs2132066800
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.653G>A (p.Arg218Gln) rs1285934866
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>A (p.Ala289Asp) rs915823109
NM_003995.4(NPR2):c.866C>T (p.Ala289Val)
NM_003995.4(NPR2):c.873+3A>G rs1827874317
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.934C>T (p.Arg312Cys)
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.98A>C (p.Glu33Ala) rs886063909
NM_003995.4(NPR2):c.990G>A (p.Met330Ile)
NM_006259.3(PRKG2):c.848G>A (p.Ser283Asn)

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