ClinVar Miner

List of variants reported as likely benign for acromesomelic dysplasia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 257
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.873+13C>A rs61758520 0.00377
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) rs35973133 0.00081
NM_001203.3(BMPR1B):c.1065T>A (p.Val355=) rs139872191 0.00064
NM_003995.4(NPR2):c.1351+10T>C rs199798952 0.00063
NM_001203.3(BMPR1B):c.247-9C>T rs199892209 0.00048
NM_003995.4(NPR2):c.1517G>A (p.Arg506His) rs114115939 0.00047
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_003995.4(NPR2):c.2372+18G>A rs180773451 0.00041
NM_003995.4(NPR2):c.90G>A (p.Val30=) rs56036598 0.00041
NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) rs55980670 0.00031
NM_001203.3(BMPR1B):c.300C>T (p.Asn100=) rs140499888 0.00030
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_003995.4(NPR2):c.697C>T (p.Leu233=) rs61758518 0.00028
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) rs150974461 0.00026
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_001203.3(BMPR1B):c.1076+18C>T rs376107447 0.00017
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.3119G>A (p.Arg1040Gln) rs146546770 0.00016
NM_001203.3(BMPR1B):c.92G>A (p.Arg31His) rs200035802 0.00015
NM_001203.3(BMPR1B):c.523T>C (p.Ser175Pro) rs143554488 0.00013
NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp) rs114147262 0.00013
NM_001203.3(BMPR1B):c.1076+20A>G rs202089229 0.00012
NM_001203.3(BMPR1B):c.909G>A (p.Lys303=) rs373401690 0.00012
NM_003995.4(NPR2):c.1633-10C>A rs201550050 0.00012
NM_003995.4(NPR2):c.2105T>A (p.Met702Lys) rs200129431 0.00010
NM_001203.3(BMPR1B):c.150C>T (p.Asp50=) rs147320212 0.00009
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) rs200083866 0.00009
NM_003995.4(NPR2):c.2712+16G>C rs531827260 0.00009
NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) rs760647140 0.00008
NM_001203.3(BMPR1B):c.1367G>A (p.Arg456Gln) rs140047318 0.00008
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) rs373000965 0.00008
NM_001203.3(BMPR1B):c.1443G>A (p.Arg481=) rs375459734 0.00007
NM_003995.4(NPR2):c.1815+3G>A rs542616645 0.00007
NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala) rs200702974 0.00006
NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala) rs759423600 0.00006
NM_001203.3(BMPR1B):c.831A>G (p.Leu277=) rs543232420 0.00006
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.2643+7G>A rs1024082991 0.00005
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp) rs778257341 0.00004
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu) rs1346115955 0.00004
NM_003995.4(NPR2):c.2118C>T (p.Asp706=) rs559838429 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.2988G>A (p.Ala996=) rs138711027 0.00004
NM_001203.3(BMPR1B):c.778+17A>G rs373361964 0.00003
NM_003995.4(NPR2):c.1236G>A (p.Ser412=) rs146712937 0.00003
NM_003995.4(NPR2):c.1644C>T (p.Val548=) rs772510686 0.00003
NM_003995.4(NPR2):c.2721G>A (p.Thr907=) rs758549770 0.00003
NM_003995.4(NPR2):c.7C>T (p.Leu3=) rs1453764250 0.00003
NM_001203.3(BMPR1B):c.1152C>T (p.Asp384=) rs375476260 0.00002
NM_001203.3(BMPR1B):c.1353C>A (p.Pro451=) rs551844397 0.00002
NM_001203.3(BMPR1B):c.147A>G (p.Thr49=) rs756055104 0.00002
NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser) rs1225550138 0.00002
NM_001203.3(BMPR1B):c.897A>G (p.Lys299=) rs760837301 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.2895C>A (p.Val965=) rs1011740301 0.00002
NM_003995.4(NPR2):c.342C>T (p.His114=) rs747247133 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_001148.6(ANK2):c.7951G>C (p.Val2651Leu) rs777477439 0.00001
NM_001203.3(BMPR1B):c.1082C>A (p.Thr361Lys) rs1416896677 0.00001
NM_001203.3(BMPR1B):c.15T>G (p.Ser5Arg) rs1466418430 0.00001
NM_001203.3(BMPR1B):c.18A>G (p.Ala6=) rs536960015 0.00001
NM_001203.3(BMPR1B):c.214C>T (p.Leu72=) rs759149974 0.00001
NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn) rs1422671894 0.00001
NM_001203.3(BMPR1B):c.468A>G (p.Arg156=) rs775608689 0.00001
NM_001203.3(BMPR1B):c.555C>T (p.Ser185=) rs1243705403 0.00001
NM_001203.3(BMPR1B):c.586-9A>T rs1034497183 0.00001
NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) rs766791531 0.00001
NM_001203.3(BMPR1B):c.72C>G (p.Thr24=) rs148603233 0.00001
NM_001203.3(BMPR1B):c.771C>T (p.Asn257=) rs763144778 0.00001
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg) rs773095683 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.1575C>A (p.Gly525=) rs753525337 0.00001
NM_003995.4(NPR2):c.1650C>T (p.Ile550=) rs369022842 0.00001
NM_003995.4(NPR2):c.1887+11C>G rs761623564 0.00001
NM_003995.4(NPR2):c.2281C>T (p.Leu761=) rs1481862376 0.00001
NM_003995.4(NPR2):c.2337T>C (p.Phe779=) rs115369552 0.00001
NM_003995.4(NPR2):c.2372+14A>T rs1367655962 0.00001
NM_003995.4(NPR2):c.2472G>A (p.Leu824=) rs1020460919 0.00001
NM_003995.4(NPR2):c.2754C>A (p.Leu918=) rs372891937 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.873+8T>C rs949975649 0.00001
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_001203.3(BMPR1B):c.1035T>A (p.Thr345=) rs760647140
NM_001203.3(BMPR1B):c.1077-18G>A
NM_001203.3(BMPR1B):c.1077-6C>G
NM_001203.3(BMPR1B):c.1101A>T (p.Pro367=)
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) rs34970181
NM_001203.3(BMPR1B):c.1112G>T (p.Arg371Leu) rs34970181
NM_001203.3(BMPR1B):c.1228G>T (p.Val410Phe)
NM_001203.3(BMPR1B):c.1239A>T (p.Arg413Ser)
NM_001203.3(BMPR1B):c.1323G>A (p.Arg441=) rs2149330585
NM_001203.3(BMPR1B):c.1347A>G (p.Leu449=)
NM_001203.3(BMPR1B):c.1365C>T (p.Asn455=)
NM_001203.3(BMPR1B):c.1384-6C>T
NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg)
NM_001203.3(BMPR1B):c.1434T>A (p.Pro478=) rs144080146
NM_001203.3(BMPR1B):c.1434T>C (p.Pro478=) rs144080146
NM_001203.3(BMPR1B):c.144-17G>A rs376913841
NM_001203.3(BMPR1B):c.1498A>G (p.Ile500Val)
NM_001203.3(BMPR1B):c.21A>G (p.Gly7=) rs2149265435
NM_001203.3(BMPR1B):c.246+10A>T
NM_001203.3(BMPR1B):c.246+9G>C
NM_001203.3(BMPR1B):c.247-8G>A
NM_001203.3(BMPR1B):c.280G>A (p.Glu94Lys)
NM_001203.3(BMPR1B):c.291A>G (p.Thr97=)
NM_001203.3(BMPR1B):c.321C>T (p.His107=)
NM_001203.3(BMPR1B):c.349+15C>T
NM_001203.3(BMPR1B):c.349+18C>G rs775026990
NM_001203.3(BMPR1B):c.399T>C (p.Thr133=)
NM_001203.3(BMPR1B):c.411G>A (p.Leu137=)
NM_001203.3(BMPR1B):c.464C>A (p.Thr155Asn)
NM_001203.3(BMPR1B):c.474A>G (p.Arg158=)
NM_001203.3(BMPR1B):c.477C>T (p.Tyr159=)
NM_001203.3(BMPR1B):c.507C>T (p.Tyr169=)
NM_001203.3(BMPR1B):c.534C>T (p.Asp178=)
NM_001203.3(BMPR1B):c.543G>A (p.Glu181=)
NM_001203.3(BMPR1B):c.558A>G (p.Ser186=)
NM_001203.3(BMPR1B):c.573C>A (p.Gly191=)
NM_001203.3(BMPR1B):c.585+18C>A
NM_001203.3(BMPR1B):c.586-19G>A
NM_001203.3(BMPR1B):c.62C>T (p.Thr21Ile)
NM_001203.3(BMPR1B):c.705C>G (p.Thr235=) rs56083112
NM_001203.3(BMPR1B):c.74C>A (p.Pro25His)
NM_001203.3(BMPR1B):c.778+17A>C
NM_001203.3(BMPR1B):c.779-15C>G rs1455866517
NM_001203.3(BMPR1B):c.779-6T>C rs2149301708
NM_001203.3(BMPR1B):c.77G>A (p.Arg26His)
NM_001203.3(BMPR1B):c.786T>A (p.Ile262=)
NM_001203.3(BMPR1B):c.804G>A (p.Gly268=) rs1733333766
NM_001203.3(BMPR1B):c.85G>T (p.Val29Phe)
NM_001203.3(BMPR1B):c.886C>T (p.Leu296=)
NM_003995.4(NPR2):c.1026G>C (p.Leu342=)
NM_003995.4(NPR2):c.1038A>G (p.Glu346=) rs1828088519
NM_003995.4(NPR2):c.1059G>A (p.Gln353=)
NM_003995.4(NPR2):c.1123+18A>G
NM_003995.4(NPR2):c.1124-11T>G
NM_003995.4(NPR2):c.1124-20G>A
NM_003995.4(NPR2):c.1173C>T (p.Asp391=)
NM_003995.4(NPR2):c.1219-5T>C
NM_003995.4(NPR2):c.1227C>G (p.Ala409=)
NM_003995.4(NPR2):c.1251G>A (p.Gln417=)
NM_003995.4(NPR2):c.1263G>A (p.Thr421=)
NM_003995.4(NPR2):c.1352-13A>G rs767710196
NM_003995.4(NPR2):c.1365C>A (p.Thr455=)
NM_003995.4(NPR2):c.1380T>A (p.Ala460=)
NM_003995.4(NPR2):c.1413T>C (p.Gly471=)
NM_003995.4(NPR2):c.1436+9T>G
NM_003995.4(NPR2):c.1485C>G (p.Arg495=)
NM_003995.4(NPR2):c.1551G>A (p.Leu517=)
NM_003995.4(NPR2):c.1557+17G>A
NM_003995.4(NPR2):c.1558-18T>C
NM_003995.4(NPR2):c.1558-6C>G
NM_003995.4(NPR2):c.1614C>T (p.Ala538=)
NM_003995.4(NPR2):c.1632+10C>T
NM_003995.4(NPR2):c.1633-13C>T
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.1776T>C (p.Ile592=)
NM_003995.4(NPR2):c.1815+14G>A
NM_003995.4(NPR2):c.183C>T (p.Pro61=)
NM_003995.4(NPR2):c.1866A>T (p.Ser622=)
NM_003995.4(NPR2):c.1923G>A (p.Ser641=)
NM_003995.4(NPR2):c.1956G>T (p.Val652=) rs769661213
NM_003995.4(NPR2):c.1992C>G (p.Gly664=)
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.2076C>T (p.Leu692=)
NM_003995.4(NPR2):c.2268A>G (p.Gln756=)
NM_003995.4(NPR2):c.2343G>A (p.Gln781=)
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.2406G>C (p.Leu802=) rs1226263208
NM_003995.4(NPR2):c.2412C>T (p.Arg804=) rs2132092445
NM_003995.4(NPR2):c.2519+14C>T
NM_003995.4(NPR2):c.2520-19C>T
NM_003995.4(NPR2):c.2520-7_2520-6del
NM_003995.4(NPR2):c.2535G>A (p.Gln845=)
NM_003995.4(NPR2):c.2577T>C (p.Ser859=)
NM_003995.4(NPR2):c.2634C>A (p.Thr878=) rs1588069140
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.2712+12G>A
NM_003995.4(NPR2):c.2712+9T>G
NM_003995.4(NPR2):c.2751C>A (p.Gly917=)
NM_003995.4(NPR2):c.276C>T (p.Asp92=)
NM_003995.4(NPR2):c.2778T>C (p.His926=)
NM_003995.4(NPR2):c.282C>T (p.Asp94=)
NM_003995.4(NPR2):c.2835C>T (p.Arg945=)
NM_003995.4(NPR2):c.2887+19C>T
NM_003995.4(NPR2):c.2887+8T>C
NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)
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.3034C>T (p.Leu1012=) rs772856710
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.309C>T (p.Tyr103=)
NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=) rs985223475
NM_003995.4(NPR2):c.354C>G (p.Pro118=)
NM_003995.4(NPR2):c.366G>A (p.Ala122=) rs549842668
NM_003995.4(NPR2):c.390G>A (p.Ser130=) rs2132066726
NM_003995.4(NPR2):c.477C>T (p.His159=) rs1554671925
NM_003995.4(NPR2):c.546C>T (p.Phe182=)
NM_003995.4(NPR2):c.552C>T (p.Ile184=) rs771425603
NM_003995.4(NPR2):c.60C>T (p.Pro20=)
NM_003995.4(NPR2):c.636G>A (p.Gln212=)
NM_003995.4(NPR2):c.63G>A (p.Gly21=)
NM_003995.4(NPR2):c.667+11C>A rs1477695310
NM_003995.4(NPR2):c.668-12A>G
NM_003995.4(NPR2):c.681C>T (p.Cys227=)
NM_003995.4(NPR2):c.804T>C (p.Arg268=)
NM_003995.4(NPR2):c.84G>C (p.Ala28=)
NM_003995.4(NPR2):c.855C>G (p.Ala285=)
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.93G>A (p.Leu31=)
NM_003995.4(NPR2):c.960C>T (p.Asp320=)
NM_003995.4(NPR2):c.987+10T>A rs547211547
NM_003995.4(NPR2):c.987+10T>G
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.9G>A (p.Leu3=) rs1827810585

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