ClinVar Miner

List of variants in gene ENPP1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 471
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.1405+236A>G rs4897548 0.33847
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_006208.3(ENPP1):c.2101-53A>G rs7768480 0.21266
NM_006208.3(ENPP1):c.915+27T>G rs9493113 0.18586
NM_006208.3(ENPP1):c.1437+154A>C rs7769712 0.13816
NM_006208.3(ENPP1):c.2608-116C>T rs9493118 0.12330
NM_006208.3(ENPP1):c.*112G>A rs1044548 0.12306
NM_006208.3(ENPP1):c.*163C>T rs1044558 0.10959
NM_006208.3(ENPP1):c.1406-216A>T rs7769058 0.08217
NM_006208.3(ENPP1):c.1894-279A>G rs3757297 0.07913
NM_006208.3(ENPP1):c.1945+246C>T rs56181787 0.07911
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07647
NM_006208.3(ENPP1):c.313+11_313+13del rs371265124 0.07594
NM_006208.3(ENPP1):c.1405+235C>T rs144202023 0.07337
NM_006208.3(ENPP1):c.2607+206_2607+207insC rs11442568 0.06695
NM_006208.3(ENPP1):c.1893+271C>T rs41286154 0.06342
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_006208.3(ENPP1):c.1025+71T>C rs62424483 0.05154
NM_006208.3(ENPP1):c.1164+222C>G rs62424489 0.05106
NM_006208.3(ENPP1):c.1565+236C>G rs62424513 0.05079
NM_006208.3(ENPP1):c.1025+268C>A rs62424484 0.04991
NM_006208.3(ENPP1):c.2608-291T>C rs6929388 0.04663
NM_006208.3(ENPP1):c.2607+206T>C rs77601007 0.04429
NM_006208.3(ENPP1):c.715+146G>A rs73539675 0.04203
NM_006208.3(ENPP1):c.314-346C>T rs79342398 0.03664
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_006208.3(ENPP1):c.796-219A>T rs62424482 0.03400
NC_000006.12:g.131808001G>T rs188291420 0.03150
NM_006208.3(ENPP1):c.241-138C>T rs59157727 0.02952
NM_006208.3(ENPP1):c.556+197T>C rs78831768 0.02947
NM_006208.3(ENPP1):c.556+231G>A rs112329728 0.02907
NM_006208.3(ENPP1):c.795+141T>C rs58015366 0.02877
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_006208.3(ENPP1):c.916-151A>G rs9493114 0.02574
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_006208.3(ENPP1):c.1091+35C>T rs77594562 0.02039
NM_006208.3(ENPP1):c.1164+234A>G rs80045736 0.02033
NM_006208.3(ENPP1):c.1565+290G>A rs74958472 0.01820
NM_006208.3(ENPP1):c.556+236C>T rs114676646 0.01817
NM_006208.3(ENPP1):c.431-95T>C rs76925655 0.01808
NM_006208.3(ENPP1):c.1893+127T>A rs112743162 0.01769
NM_006208.3(ENPP1):c.1091+131G>A rs113445024 0.01752
NM_006208.3(ENPP1):c.314-64G>A rs113260515 0.01726
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070 0.01601
NM_006208.3(ENPP1):c.2101-215G>A rs148418203 0.01597
NC_000006.12:g.131807700C>T rs115872950 0.01562
NC_000006.12:g.131807976G>A rs866671842 0.01557
NM_006208.3(ENPP1):c.1946-325C>A rs77324163 0.01499
NM_006208.3(ENPP1):c.1945+310G>C rs75248580 0.01498
NM_006208.3(ENPP1):c.1946-94A>G rs114690999 0.01498
NM_006208.3(ENPP1):c.1274-94C>T rs76261637 0.01497
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_006208.3(ENPP1):c.1438-110A>G rs74401203 0.01489
NM_006208.3(ENPP1):c.1893+272G>A rs75899506 0.01484
NM_006208.3(ENPP1):c.1894-67G>A rs79914189 0.01484
NM_006208.3(ENPP1):c.1893+57T>C rs115666152 0.01482
NM_006208.3(ENPP1):c.1894-123A>G rs79482937 0.01482
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_006208.3(ENPP1):c.2607+207T>C rs73778352 0.01410
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_006208.3(ENPP1):c.1165-103C>G rs140165131 0.01361
NM_006208.3(ENPP1):c.1274-191G>A rs77563741 0.01338
NM_006208.3(ENPP1):c.1165-287A>G rs75755833 0.01334
NM_006208.3(ENPP1):c.1165-99G>C rs370142033 0.01329
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01323
NM_006208.3(ENPP1):c.1565+283C>T rs75112462 0.01198
NM_006208.3(ENPP1):c.1273+70A>T rs145365159 0.01165
NM_006208.3(ENPP1):c.617+62T>C rs114189737 0.00938
NM_006208.3(ENPP1):c.2607+208T>C rs556957117 0.00912
NM_006208.3(ENPP1):c.796-40G>A rs144151931 0.00828
NC_000006.12:g.131807832C>T rs183601308 0.00804
NM_006208.3(ENPP1):c.618-20T>G rs143637835 0.00689
NM_006208.3(ENPP1):c.2230+28C>A rs181153206 0.00575
NM_006208.3(ENPP1):c.1438-26T>C rs78559603 0.00559
NM_006208.3(ENPP1):c.1091+76C>A rs146229718 0.00544
NM_006208.3(ENPP1):c.313+10del rs778260177 0.00389
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683 0.00299
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_006208.3(ENPP1):c.2101-10del rs200562612 0.00116
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_006208.3(ENPP1):c.313+13G>T rs748468831 0.00111
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196 0.00080
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_006208.3(ENPP1):c.313+10T>G rs202225018 0.00059
NM_006208.3(ENPP1):c.860C>T (p.Ser287Phe) rs190947144 0.00031
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_006208.3(ENPP1):c.120C>T (p.Pro40=) rs553929139 0.00020
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006208.3(ENPP1):c.2114C>T (p.Thr705Met) rs138032713 0.00016
NM_006208.3(ENPP1):c.1776C>T (p.Asn592=) rs41286148 0.00013
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_006208.3(ENPP1):c.716-15T>C rs751158406 0.00011
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 0.00010
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) rs754866098 0.00009
NM_006208.3(ENPP1):c.199C>G (p.Arg67Gly) rs1017385280 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 0.00009
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) rs536023117 0.00007
NM_006208.3(ENPP1):c.313+11G>T rs781539069 0.00007
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) rs142835743 0.00006
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) rs150970657 0.00005
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) rs137853273 0.00004
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser) rs2273411 0.00004
NM_006208.3(ENPP1):c.915+10T>C rs369344925 0.00004
NM_006208.3(ENPP1):c.1564T>C (p.Leu522=) rs907688104 0.00003
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) rs140470927 0.00003
NM_006208.3(ENPP1):c.2079A>G (p.Thr693=) rs768610723 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_006208.3(ENPP1):c.2230+13C>T rs537428242 0.00002
NM_006208.3(ENPP1):c.273T>G (p.Leu91=) rs188509861 0.00002
NM_006208.3(ENPP1):c.313+15G>T rs770352358 0.00002
NM_006208.3(ENPP1):c.313+17G>T rs907957360 0.00002
NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr) rs771405037 0.00002
NM_006208.3(ENPP1):c.1164+9A>G rs571952564 0.00001
NM_006208.3(ENPP1):c.1376C>T (p.Pro459Leu) rs1340431392 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702 0.00001
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) rs1452598874 0.00001
NM_006208.3(ENPP1):c.1735T>G (p.Leu579Val) rs144209970 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn) rs748798632 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.210G>A (p.Lys70=) rs901639495 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006208.3(ENPP1):c.236C>T (p.Ser79Leu) rs1320639230 0.00001
NM_006208.3(ENPP1):c.2379C>T (p.Val793=) rs755592935 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.2733T>C (p.Ile911=) rs758782750 0.00001
NM_006208.3(ENPP1):c.556+8G>T rs746150115 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) rs754659608 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 0.00001
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) rs17847050 0.00001
NM_006208.3(ENPP1):c.990C>T (p.Asn330=) rs758973448 0.00001
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.1025+192G>A
NM_006208.3(ENPP1):c.1025+234G>A rs78341739
NM_006208.3(ENPP1):c.1025+291C>T rs112519511
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006208.3(ENPP1):c.1026-3T>A
NM_006208.3(ENPP1):c.1026-9T>G
NM_006208.3(ENPP1):c.1028C>A (p.Ser343Ter)
NM_006208.3(ENPP1):c.1030G>T (p.Val344Leu)
NM_006208.3(ENPP1):c.1038T>G (p.Phe346Leu)
NM_006208.3(ENPP1):c.1039G>A (p.Glu347Lys)
NM_006208.3(ENPP1):c.1051T>C (p.Leu351=)
NM_006208.3(ENPP1):c.105C>T (p.His35=)
NM_006208.3(ENPP1):c.1062T>C (p.Leu354=)
NM_006208.3(ENPP1):c.1092-42A>G
NM_006208.3(ENPP1):c.1092-9T>A
NM_006208.3(ENPP1):c.1107T>C (p.Thr369=)
NM_006208.3(ENPP1):c.1136G>T (p.Gly379Val) rs750866854
NM_006208.3(ENPP1):c.1144T>A (p.Tyr382Asn)
NM_006208.3(ENPP1):c.1159A>C (p.Ser387Arg)
NM_006208.3(ENPP1):c.1164+7A>C
NM_006208.3(ENPP1):c.1165-210T>C rs17060836
NM_006208.3(ENPP1):c.1165-76del rs879176917
NM_006208.3(ENPP1):c.117G>T (p.Ala39=)
NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr)
NM_006208.3(ENPP1):c.125A>C (p.Asp42Ala)
NM_006208.3(ENPP1):c.1266A>T (p.Ser422=)
NM_006208.3(ENPP1):c.1274-8del
NM_006208.3(ENPP1):c.1274-8dup rs149287352
NM_006208.3(ENPP1):c.1290T>C (p.Ser430=)
NM_006208.3(ENPP1):c.1300T>C (p.Tyr434His)
NM_006208.3(ENPP1):c.1321T>C (p.Leu441=)
NM_006208.3(ENPP1):c.1332del (p.Asn446fs)
NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe)
NM_006208.3(ENPP1):c.134C>A (p.Ala45Glu)
NM_006208.3(ENPP1):c.1367G>T (p.Arg456Leu)
NM_006208.3(ENPP1):c.136G>T (p.Ala46Ser)
NM_006208.3(ENPP1):c.1405T>C (p.Phe469Leu)
NM_006208.3(ENPP1):c.1406-255A>G rs9493115
NM_006208.3(ENPP1):c.1406-6C>T
NM_006208.3(ENPP1):c.1406-8C>T
NM_006208.3(ENPP1):c.1407T>C (p.Phe469=)
NM_006208.3(ENPP1):c.1412A>G (p.Tyr471Cys)
NM_006208.3(ENPP1):c.1423G>A (p.Ala475Thr)
NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln)
NM_006208.3(ENPP1):c.1437+1G>T rs1782169595
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.1438-3C>G
NM_006208.3(ENPP1):c.1438-3C>T
NM_006208.3(ENPP1):c.1438T>C (p.Cys480Arg)
NM_006208.3(ENPP1):c.1442G>A (p.Arg481Gln)
NM_006208.3(ENPP1):c.1444G>C (p.Glu482Gln)
NM_006208.3(ENPP1):c.145T>A (p.Leu49Met)
NM_006208.3(ENPP1):c.1465C>T (p.Pro489Ser)
NM_006208.3(ENPP1):c.1499A>C (p.His500Pro)
NM_006208.3(ENPP1):c.149T>C (p.Leu50Pro)
NM_006208.3(ENPP1):c.1503T>C (p.Phe501=)
NM_006208.3(ENPP1):c.1503del (p.Phe501fs) rs2114715466
NM_006208.3(ENPP1):c.1506T>C (p.Ala502=)
NM_006208.3(ENPP1):c.1538A>G (p.Tyr513Cys)
NM_006208.3(ENPP1):c.1560T>A (p.Leu520=)
NM_006208.3(ENPP1):c.1563A>C (p.Ala521=)
NM_006208.3(ENPP1):c.1565+2dup rs772919133
NM_006208.3(ENPP1):c.1565T>G (p.Leu522Trp)
NM_006208.3(ENPP1):c.1576G>C (p.Glu526Gln)
NM_006208.3(ENPP1):c.1581G>C (p.Arg527Ser)
NM_006208.3(ENPP1):c.1604A>G (p.His535Arg)
NM_006208.3(ENPP1):c.1635+16A>G
NM_006208.3(ENPP1):c.1635A>G (p.Gln545=)
NM_006208.3(ENPP1):c.1636-202A>C rs75998327
NM_006208.3(ENPP1):c.1636-254dup rs139777112
NM_006208.3(ENPP1):c.1636-58G>T rs115951650
NM_006208.3(ENPP1):c.1636-9G>A
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
NM_006208.3(ENPP1):c.165G>T (p.Val55=)
NM_006208.3(ENPP1):c.1700T>C (p.Ile567Thr)
NM_006208.3(ENPP1):c.1719G>A (p.Met573Ile)
NM_006208.3(ENPP1):c.1722T>C (p.Cys574=)
NM_006208.3(ENPP1):c.1724-19C>T rs765387857
NM_006208.3(ENPP1):c.1724-5T>C
NM_006208.3(ENPP1):c.1743G>A (p.Pro581=)
NM_006208.3(ENPP1):c.1753A>G (p.Asn585Asp)
NM_006208.3(ENPP1):c.1755C>T (p.Asn585=)
NM_006208.3(ENPP1):c.1792C>G (p.Pro598Ala)
NM_006208.3(ENPP1):c.1802C>T (p.Thr601Met)
NM_006208.3(ENPP1):c.1803G>A (p.Thr601=)
NM_006208.3(ENPP1):c.1804C>T (p.Pro602Ser)
NM_006208.3(ENPP1):c.1827C>G (p.His609Gln)
NM_006208.3(ENPP1):c.1835T>C (p.Val612Ala)
NM_006208.3(ENPP1):c.1846T>C (p.Phe616Leu)
NM_006208.3(ENPP1):c.1855A>G (p.Asn619Asp)
NM_006208.3(ENPP1):c.1857C>T (p.Asn619=)
NM_006208.3(ENPP1):c.1867A>T (p.Asn623Tyr)
NM_006208.3(ENPP1):c.1870C>T (p.Leu624Phe)
NM_006208.3(ENPP1):c.1882T>A (p.Cys628Ser)
NM_006208.3(ENPP1):c.1889C>A (p.Pro630His) rs1782240198
NM_006208.3(ENPP1):c.1892C>T (p.Ser631Leu)
NM_006208.3(ENPP1):c.1893+10G>A
NM_006208.3(ENPP1):c.1893+141G>A rs41286150
NM_006208.3(ENPP1):c.1893+210C>T rs41286152
NM_006208.3(ENPP1):c.1893+9C>T
NM_006208.3(ENPP1):c.1894-19G>C
NM_006208.3(ENPP1):c.1894-204C>G rs75254665
NM_006208.3(ENPP1):c.1902G>A (p.Pro634=)
NM_006208.3(ENPP1):c.1909G>C (p.Asp637His) rs2114722383
NM_006208.3(ENPP1):c.193C>G (p.Arg65Gly)
NM_006208.3(ENPP1):c.1945+19T>C
NM_006208.3(ENPP1):c.1973C>T (p.Pro658Leu)
NM_006208.3(ENPP1):c.197C>T (p.Ala66Val)
NM_006208.3(ENPP1):c.1983A>T (p.Arg661Ser)
NM_006208.3(ENPP1):c.1997A>G (p.Gln666Arg)
NM_006208.3(ENPP1):c.1A>G (p.Met1Val)
NM_006208.3(ENPP1):c.200G>A (p.Arg67His)
NM_006208.3(ENPP1):c.2010C>T (p.Thr670=)
NM_006208.3(ENPP1):c.2024C>G (p.Ser675Cys)
NM_006208.3(ENPP1):c.2029C>A (p.His677Asn)
NM_006208.3(ENPP1):c.2031C>G (p.His677Gln)
NM_006208.3(ENPP1):c.2047T>C (p.Tyr683His)
NM_006208.3(ENPP1):c.2066T>C (p.Met689Thr)
NM_006208.3(ENPP1):c.2068C>G (p.Pro690Ala)
NM_006208.3(ENPP1):c.2078C>T (p.Thr693Ile)
NM_006208.3(ENPP1):c.2086A>G (p.Thr696Ala)
NM_006208.3(ENPP1):c.2091G>A (p.Val697=)
NM_006208.3(ENPP1):c.2100+15C>T
NM_006208.3(ENPP1):c.2100+8T>A
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.2101-286_2101-285insAAAA rs59854617
NM_006208.3(ENPP1):c.2101-313AATA[8] rs10595693
NM_006208.3(ENPP1):c.2101-9G>A
NM_006208.3(ENPP1):c.2111C>T (p.Ser704Phe)
NM_006208.3(ENPP1):c.2113A>C (p.Thr705Pro)
NM_006208.3(ENPP1):c.2156C>T (p.Pro719Leu)
NM_006208.3(ENPP1):c.2161A>G (p.Ser721Gly)
NM_006208.3(ENPP1):c.2185T>C (p.Tyr729His)
NM_006208.3(ENPP1):c.2187T>C (p.Tyr729=)
NM_006208.3(ENPP1):c.2191A>C (p.Asn731His)
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) rs748292010
NM_006208.3(ENPP1):c.2192A>G (p.Asn731Ser)
NM_006208.3(ENPP1):c.2211C>T (p.Tyr737=)
NM_006208.3(ENPP1):c.2212G>A (p.Gly738Arg)
NM_006208.3(ENPP1):c.2230+128TA[3] rs3036847
NM_006208.3(ENPP1):c.2230+177_2230+178del rs10589841
NM_006208.3(ENPP1):c.2231-17C>T
NM_006208.3(ENPP1):c.2231-209C>G rs9493117
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr)
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.2252del (p.Gly751fs)
NM_006208.3(ENPP1):c.2253A>G (p.Gly751=)
NM_006208.3(ENPP1):c.2286A>T (p.Ile762=)
NM_006208.3(ENPP1):c.2292A>G (p.Pro764=)
NM_006208.3(ENPP1):c.229G>A (p.Val77Ile)
NM_006208.3(ENPP1):c.2301G>C (p.Gln767His)
NM_006208.3(ENPP1):c.2311+5A>C
NM_006208.3(ENPP1):c.2312-12A>G
NM_006208.3(ENPP1):c.2312-5_2313del
NM_006208.3(ENPP1):c.2317T>C (p.Trp773Arg)
NM_006208.3(ENPP1):c.2321G>A (p.Arg774His)
NM_006208.3(ENPP1):c.2330A>C (p.His777Pro)
NM_006208.3(ENPP1):c.2345G>A (p.Arg782Gln)
NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile)
NM_006208.3(ENPP1):c.2373C>G (p.Val791=)
NM_006208.3(ENPP1):c.240+20C>T
NM_006208.3(ENPP1):c.240+8C>T
NM_006208.3(ENPP1):c.2405A>G (p.Asp802Gly)
NM_006208.3(ENPP1):c.2413G>A (p.Gly805Arg) rs1274938315
NM_006208.3(ENPP1):c.2414G>T (p.Gly805Val)
NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys)
NM_006208.3(ENPP1):c.2427C>G (p.Ser809=)
NM_006208.3(ENPP1):c.2429dup (p.Leu810fs)
NM_006208.3(ENPP1):c.2444+10T>C rs947631280
NM_006208.3(ENPP1):c.2444+20C>G
NM_006208.3(ENPP1):c.2445-5T>A
NM_006208.3(ENPP1):c.2449AGA[1] (p.Arg818del) rs780709634
NM_006208.3(ENPP1):c.2451A>G (p.Arg817=)
NM_006208.3(ENPP1):c.2461C>T (p.Arg821Cys)
NM_006208.3(ENPP1):c.2471A>G (p.Glu824Gly)
NM_006208.3(ENPP1):c.2475T>G (p.Ile825Met)
NM_006208.3(ENPP1):c.2478G>C (p.Leu826Phe)
NM_006208.3(ENPP1):c.2490C>T (p.His830=) rs2114731537
NM_006208.3(ENPP1):c.2496T>C (p.Phe832=)
NM_006208.3(ENPP1):c.249A>G (p.Ser83=)
NM_006208.3(ENPP1):c.2500G>A (p.Val834Met)
NM_006208.3(ENPP1):c.250G>A (p.Val84Ile)
NM_006208.3(ENPP1):c.2531C>T (p.Thr844Met)
NM_006208.3(ENPP1):c.2532G>A (p.Thr844=)
NM_006208.3(ENPP1):c.2556C>T (p.Asp852=)
NM_006208.3(ENPP1):c.2591A>T (p.Asn864Ile)
NM_006208.3(ENPP1):c.2607+101_2607+102insCTT rs10692757
NM_006208.3(ENPP1):c.2607+16A>G
NM_006208.3(ENPP1):c.2607+199_2607+200insCATT rs10692758
NM_006208.3(ENPP1):c.2607+222del rs60409660
NM_006208.3(ENPP1):c.2608-20_2608-18del rs768023537
NM_006208.3(ENPP1):c.2608-63A>G rs9493119
NM_006208.3(ENPP1):c.2625C>T (p.Ser875=)
NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter)
NM_006208.3(ENPP1):c.2633T>G (p.Val878Gly)
NM_006208.3(ENPP1):c.2634T>G (p.Val878=)
NM_006208.3(ENPP1):c.2643G>A (p.Leu881=)
NM_006208.3(ENPP1):c.2655C>T (p.His885=)
NM_006208.3(ENPP1):c.265A>G (p.Thr89Ala)
NM_006208.3(ENPP1):c.2662C>T (p.Arg888Trp)
NM_006208.3(ENPP1):c.2663G>A (p.Arg888Gln)
NM_006208.3(ENPP1):c.2676T>G (p.Val892=)
NM_006208.3(ENPP1):c.2699T>C (p.Phe900Ser)
NM_006208.3(ENPP1):c.26G>A (p.Gly9Asp)
NM_006208.3(ENPP1):c.2712A>G (p.Arg904=)
NM_006208.3(ENPP1):c.2713_2717del (p.Lys905fs)
NM_006208.3(ENPP1):c.2740T>C (p.Leu914=)
NM_006208.3(ENPP1):c.2741T>G (p.Leu914Trp) rs751725130
NM_006208.3(ENPP1):c.2756C>T (p.Pro919Leu)
NM_006208.3(ENPP1):c.2760C>T (p.Thr920=)
NM_006208.3(ENPP1):c.2778A>G (p.Ter926Trp)
NM_006208.3(ENPP1):c.27C>G (p.Gly9=) rs794726927
NM_006208.3(ENPP1):c.282A>G (p.Ile94Met)
NM_006208.3(ENPP1):c.288del (p.Gly96_Leu97insTer) rs1554278189
NM_006208.3(ENPP1):c.2T>C (p.Met1Thr)
NM_006208.3(ENPP1):c.301T>C (p.Cys101Arg)
NM_006208.3(ENPP1):c.313+16T>G
NM_006208.3(ENPP1):c.313+19G>T rs940664577
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTT rs879243445
NM_006208.3(ENPP1):c.313+8_313+9insTTGT rs879243445
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT rs879243445
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445
NM_006208.3(ENPP1):c.313+9GT[15] rs59956343
NM_006208.3(ENPP1):c.313+9GT[16] rs59956343
NM_006208.3(ENPP1):c.313+9GT[17] rs59956343
NM_006208.3(ENPP1):c.313+9GT[18] rs59956343
NM_006208.3(ENPP1):c.313+9GT[20] rs59956343
NM_006208.3(ENPP1):c.313+9GT[21] rs59956343
NM_006208.3(ENPP1):c.313+9GT[22] rs59956343
NM_006208.3(ENPP1):c.313+9GT[23] rs59956343
NM_006208.3(ENPP1):c.313+9_313+10insGGTG rs536901634
NM_006208.3(ENPP1):c.313+9_313+11del rs779101536
NM_006208.3(ENPP1):c.313+9del rs377330284
NM_006208.3(ENPP1):c.314-11A>G
NM_006208.3(ENPP1):c.314-124C>G rs114868782
NM_006208.3(ENPP1):c.314-16C>T
NM_006208.3(ENPP1):c.314-17T>C
NM_006208.3(ENPP1):c.314-4dup
NM_006208.3(ENPP1):c.328G>A (p.Gly110Ser)
NM_006208.3(ENPP1):c.331C>T (p.Arg111Cys)
NM_006208.3(ENPP1):c.332G>A (p.Arg111His) rs749866787
NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)
NM_006208.3(ENPP1):c.359G>C (p.Cys120Ser)
NM_006208.3(ENPP1):c.373G>A (p.Ala125Thr)
NM_006208.3(ENPP1):c.378T>A (p.Cys126Ter)
NM_006208.3(ENPP1):c.383A>T (p.Glu128Val)
NM_006208.3(ENPP1):c.413A>G (p.Glu138Gly)
NM_006208.3(ENPP1):c.416C>T (p.Thr139Met)
NM_006208.3(ENPP1):c.419G>T (p.Cys140Phe)
NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg)
NM_006208.3(ENPP1):c.430+13A>C
NM_006208.3(ENPP1):c.430+15G>A
NM_006208.3(ENPP1):c.430+17A>G
NM_006208.3(ENPP1):c.430+19A>G
NM_006208.3(ENPP1):c.430+20A>G
NM_006208.3(ENPP1):c.430+3A>G
NM_006208.3(ENPP1):c.430+5G>C
NM_006208.3(ENPP1):c.432A>T (p.Glu144Asp)
NM_006208.3(ENPP1):c.436A>C (p.Ile146Leu)
NM_006208.3(ENPP1):c.448A>C (p.Asn150His)
NM_006208.3(ENPP1):c.454T>G (p.Phe152Val)
NM_006208.3(ENPP1):c.459G>A (p.Arg153=)
NM_006208.3(ENPP1):c.491G>A (p.Cys164Tyr)
NM_006208.3(ENPP1):c.494C>T (p.Ala165Val)
NM_006208.3(ENPP1):c.497G>A (p.Cys166Tyr)
NM_006208.3(ENPP1):c.501A>T (p.Ser167=)
NM_006208.3(ENPP1):c.502G>C (p.Asp168His)
NM_006208.3(ENPP1):c.516_517delinsGC (p.Asp172_Lys173delinsGluGln)
NM_006208.3(ENPP1):c.523G>A (p.Asp175Asn)
NM_006208.3(ENPP1):c.531C>T (p.Cys177=)
NM_006208.3(ENPP1):c.544T>G (p.Ser182Ala) rs1195225190
NM_006208.3(ENPP1):c.546T>C (p.Ser182=)
NM_006208.3(ENPP1):c.556+11C>T
NM_006208.3(ENPP1):c.556+12G>A
NM_006208.3(ENPP1):c.556+17G>T
NM_006208.3(ENPP1):c.556+18C>G
NM_006208.3(ENPP1):c.55G>A (p.Ala19Thr)
NM_006208.3(ENPP1):c.580C>A (p.Pro194Thr) rs2114693565
NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg)
NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser)
NM_006208.3(ENPP1):c.600G>T (p.Glu200Asp)
NM_006208.3(ENPP1):c.612A>G (p.Pro204=)
NM_006208.3(ENPP1):c.615A>C (p.Ala205=)
NM_006208.3(ENPP1):c.617+10T>C
NM_006208.3(ENPP1):c.617+19G>A
NM_006208.3(ENPP1):c.61C>T (p.Arg21Trp)
NM_006208.3(ENPP1):c.664G>A (p.Ala222Thr)
NM_006208.3(ENPP1):c.6G>A (p.Glu2=)
NM_006208.3(ENPP1):c.713T>C (p.Leu238Pro)
NM_006208.3(ENPP1):c.715+1G>C
NM_006208.3(ENPP1):c.716-10del
NM_006208.3(ENPP1):c.716-10dup
NM_006208.3(ENPP1):c.716-4C>A
NM_006208.3(ENPP1):c.719A>G (p.Lys240Arg)
NM_006208.3(ENPP1):c.732T>C (p.Tyr244=)
NM_006208.3(ENPP1):c.750G>C (p.Pro250=) rs368742582
NM_006208.3(ENPP1):c.761del (p.Thr254fs) rs2114700273
NM_006208.3(ENPP1):c.766A>G (p.Thr256Ala)
NM_006208.3(ENPP1):c.776A>G (p.Asn259Ser)
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) rs267606784
NM_006208.3(ENPP1):c.787A>T (p.Ile263Phe)
NM_006208.3(ENPP1):c.795+1G>A rs753851892
NM_006208.3(ENPP1):c.796-2A>G
NM_006208.3(ENPP1):c.826G>A (p.Asp276Asn)
NM_006208.3(ENPP1):c.845C>T (p.Pro282Leu) rs1782006858
NM_006208.3(ENPP1):c.855T>A (p.Asn285Lys)
NM_006208.3(ENPP1):c.87C>G (p.Arg29=)
NM_006208.3(ENPP1):c.889A>C (p.Asn297His)
NM_006208.3(ENPP1):c.88G>T (p.Asp30Tyr)
NM_006208.3(ENPP1):c.895G>C (p.Glu299Gln)
NM_006208.3(ENPP1):c.897G>A (p.Glu299=)
NM_006208.3(ENPP1):c.898T>A (p.Trp300Arg)
NM_006208.3(ENPP1):c.916A>T (p.Ile306Phe)
NM_006208.3(ENPP1):c.934T>C (p.Tyr312His)
NM_006208.3(ENPP1):c.939A>C (p.Gln313His)
NM_006208.3(ENPP1):c.942C>A (p.Gly314=)
NM_006208.3(ENPP1):c.958T>C (p.Phe320Leu)
NM_006208.3(ENPP1):c.988A>G (p.Asn330Asp)
NM_006208.3(ENPP1):c.98G>A (p.Arg33His)
NM_006208.3(ENPP1):c.999C>T (p.Phe333=)

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