ClinVar Miner

List of variants in gene ENPP1 studied for hereditary hypophosphatemic rickets

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.*1972G>C rs1931006 0.57374
NM_006208.3(ENPP1):c.*3724C>T rs2327154 0.46998
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_006208.3(ENPP1):c.*1157C>T rs7754859 0.44164
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_006208.3(ENPP1):c.*1091A>C rs7754586 0.28727
NM_006208.3(ENPP1):c.*1539A>G rs9493121 0.16942
NM_006208.3(ENPP1):c.*3837T>C rs55725924 0.16400
NM_006208.3(ENPP1):c.*3511T>C rs9483350 0.16375
NM_006208.3(ENPP1):c.*1350G>A rs9493120 0.12565
NM_006208.3(ENPP1):c.*563G>A rs1044586 0.12391
NM_006208.3(ENPP1):c.*1101G>T rs11154647 0.12369
NM_006208.3(ENPP1):c.*1137T>C rs11154648 0.12356
NM_006208.3(ENPP1):c.*777C>T rs34836463 0.12355
NM_006208.3(ENPP1):c.*457T>A rs1044582 0.12353
NM_006208.3(ENPP1):c.*699T>A rs34142005 0.12323
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.*389G>A rs553 0.10942
NM_006208.3(ENPP1):c.*1240T>C rs758925757 0.10712
NM_006208.3(ENPP1):c.*3271C>G rs1510 0.09857
NM_006208.3(ENPP1):c.*4636C>T rs11963615 0.08655
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07647
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_006208.3(ENPP1):c.*3838G>A rs59958908 0.05378
NM_006208.3(ENPP1):c.*1670T>C rs9493122 0.04663
NM_006208.3(ENPP1):c.*735A>G rs12212882 0.04659
NM_006208.3(ENPP1):c.*1348T>C rs9483349 0.04649
NM_006208.3(ENPP1):c.*2282G>A rs73778612 0.04080
NM_006208.3(ENPP1):c.*3017C>T rs1931009 0.03561
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_006208.3(ENPP1):c.*2036A>G rs73778611 0.03506
NM_006208.3(ENPP1):c.*3706G>A rs12205225 0.03390
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_006208.3(ENPP1):c.*3784T>C rs116417632 0.02593
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_006208.3(ENPP1):c.*3625G>A rs150482147 0.02409
NM_006208.3(ENPP1):c.*477A>T rs113086095 0.01777
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.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_006208.3(ENPP1):c.*3163C>T rs55670720 0.01449
NM_006208.3(ENPP1):c.*2900G>T rs78495668 0.01409
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01323
NM_006208.3(ENPP1):c.*2301A>G rs115728089 0.01267
NM_006208.3(ENPP1):c.*2076C>T rs117531639 0.01090
NM_006208.3(ENPP1):c.*400C>A rs55828988 0.00861
NM_006208.3(ENPP1):c.*1224A>G rs115623040 0.00854
NM_006208.3(ENPP1):c.*4248G>A rs150587148 0.00820
NM_006208.3(ENPP1):c.*1122A>G rs148507889 0.00539
NM_006208.3(ENPP1):c.*3176T>A rs114333444 0.00525
NM_006208.3(ENPP1):c.*1038T>A rs79214335 0.00496
NM_006208.3(ENPP1):c.*96C>T rs147396850 0.00384
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.*3879A>G rs144511581 0.00216
NM_006208.3(ENPP1):c.*4064T>C rs141760620 0.00214
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_006208.3(ENPP1):c.*3920G>A rs111741864 0.00167
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_006208.3(ENPP1):c.*3528C>T rs557822175 0.00161
NM_006208.3(ENPP1):c.*3594C>T rs140569538 0.00139
NM_006208.3(ENPP1):c.*1307T>G rs189263683 0.00117
NM_006208.3(ENPP1):c.*4015G>A rs531152298 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.*1499C>T rs541116091 0.00106
NM_006208.3(ENPP1):c.*804A>G rs114078048 0.00098
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.*3718C>T rs867805924 0.00071
NM_006208.3(ENPP1):c.*1239T>C rs1251519009 0.00063
NM_006208.3(ENPP1):c.*2564A>G rs534823686 0.00061
NM_006208.3(ENPP1):c.313+10T>G rs202225018 0.00059
NM_006208.3(ENPP1):c.*1525T>G rs751093256 0.00038
NM_006208.3(ENPP1):c.*467A>C rs866470811 0.00038
NM_006208.3(ENPP1):c.*1125G>T rs565731581 0.00036
NM_006208.3(ENPP1):c.*2342G>T rs570500845 0.00036
NM_006208.3(ENPP1):c.*3602C>T rs540525767 0.00034
NM_006208.3(ENPP1):c.*1960C>T rs538657283 0.00028
NM_006208.3(ENPP1):c.*657A>G rs1020041286 0.00028
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_006208.3(ENPP1):c.*2698G>A rs146550172 0.00023
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_006208.3(ENPP1):c.*1105T>C rs534792138 0.00017
NM_006208.3(ENPP1):c.*2737C>T rs545095322 0.00017
NM_006208.3(ENPP1):c.*910C>G rs180843359 0.00017
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006208.3(ENPP1):c.*637A>C rs552323303 0.00016
NM_006208.3(ENPP1):c.2114C>T (p.Thr705Met) rs138032713 0.00016
NM_006208.3(ENPP1):c.*1221A>G rs537272519 0.00012
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_006208.3(ENPP1):c.*2966C>G rs1224210803 0.00010
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 0.00010
NM_006208.3(ENPP1):c.*4346T>A rs374532158 0.00009
NM_006208.3(ENPP1):c.*485C>A rs563326994 0.00009
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) rs754866098 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 0.00009
NM_006208.3(ENPP1):c.*1858C>G rs559926548 0.00008
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.*4586G>A rs886061083 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.*4471C>T rs755679925 0.00005
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.*1559G>T rs551333973 0.00004
NM_006208.3(ENPP1):c.*1716G>A rs969372935 0.00004
NM_006208.3(ENPP1):c.*3126C>T rs886061078 0.00004
NM_006208.3(ENPP1):c.*4571G>C rs574559068 0.00004
NM_006208.3(ENPP1):c.*4641A>G rs545401301 0.00004
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.*3450T>C rs886061081 0.00003
NM_006208.3(ENPP1):c.*3919C>T rs866475719 0.00003
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) rs140470927 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.157A>G (p.Met53Val) rs1328207700 0.00002
NM_006208.3(ENPP1):c.2230+13C>T rs537428242 0.00002
NM_006208.3(ENPP1):c.313+15G>T rs770352358 0.00002
NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr) rs771405037 0.00002
NM_006208.3(ENPP1):c.*120C>T rs1435986196 0.00001
NM_006208.3(ENPP1):c.*1795A>T rs886061074 0.00001
NM_006208.3(ENPP1):c.*1940T>G rs1752128155 0.00001
NM_006208.3(ENPP1):c.*2130C>T rs886061076 0.00001
NM_006208.3(ENPP1):c.*3885C>T rs1223923900 0.00001
NM_006208.3(ENPP1):c.*4047C>T rs1013601584 0.00001
NM_006208.3(ENPP1):c.*4332C>T rs1446084490 0.00001
NM_006208.3(ENPP1):c.*4369C>T rs1300407002 0.00001
NM_006208.3(ENPP1):c.*536T>C rs184796209 0.00001
NM_006208.3(ENPP1):c.*671T>C rs1022965766 0.00001
NM_006208.3(ENPP1):c.*888C>T rs886061069 0.00001
NM_006208.3(ENPP1):c.1164+9A>G rs571952564 0.00001
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) rs886061066 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.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.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) rs1475050245 0.00001
NM_006208.3(ENPP1):c.21G>T (p.Ala7=) rs886061063 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.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) rs1481378734 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 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.*103A>G rs934807026
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1236G>T rs11154649
NM_006208.3(ENPP1):c.*1290T>A rs886061073
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.*150G>A rs571779819
NM_006208.3(ENPP1):c.*1618A>G rs1782479055
NM_006208.3(ENPP1):c.*1864T>C rs1782482761
NM_006208.3(ENPP1):c.*2073C>G rs541153028
NM_006208.3(ENPP1):c.*2129T>C rs886061075
NM_006208.3(ENPP1):c.*2543T>G rs1782491483
NM_006208.3(ENPP1):c.*3600G>T rs573224206
NM_006208.3(ENPP1):c.*38G>A rs191654371
NM_006208.3(ENPP1):c.*392G>A rs1782461266
NM_006208.3(ENPP1):c.*4014C>A rs774267525
NM_006208.3(ENPP1):c.*4287G>A rs1782525012
NM_006208.3(ENPP1):c.*4507A>G rs1017283996
NM_006208.3(ENPP1):c.*4620G>T rs1782530336
NM_006208.3(ENPP1):c.*516T>C rs1782462977
NM_006208.3(ENPP1):c.*577G>A rs891388334
NM_006208.3(ENPP1):c.*772A>G rs34608785
NM_006208.3(ENPP1):c.*772A>T rs34608785
NM_006208.3(ENPP1):c.*848T>C rs1782467588
NM_006208.3(ENPP1):c.*902G>A rs572823916
NM_006208.3(ENPP1):c.1025+14A>T
NM_006208.3(ENPP1):c.1026-15T>A
NM_006208.3(ENPP1):c.102C>G (p.Ser34Arg)
NM_006208.3(ENPP1):c.1038T>G (p.Phe346Leu)
NM_006208.3(ENPP1):c.103C>T (p.His35Tyr)
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) rs941474086
NM_006208.3(ENPP1):c.1120G>A (p.Glu374Lys)
NM_006208.3(ENPP1):c.1133C>T (p.Ser378Leu)
NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr)
NM_006208.3(ENPP1):c.124del (p.Asp42fs)
NM_006208.3(ENPP1):c.1273+1G>A rs755969803
NM_006208.3(ENPP1):c.1303A>G (p.Ile435Val)
NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe)
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter) rs1258544339
NM_006208.3(ENPP1):c.1379C>G (p.Ser460Cys)
NM_006208.3(ENPP1):c.1405T>C (p.Phe469Leu)
NM_006208.3(ENPP1):c.1418G>A (p.Gly473Asp)
NM_006208.3(ENPP1):c.1426C>T (p.Arg476Ter)
NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln)
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.145T>A (p.Leu49Met)
NM_006208.3(ENPP1):c.1566-15A>G
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
NM_006208.3(ENPP1):c.1660G>A (p.Gly554Arg)
NM_006208.3(ENPP1):c.1678G>C (p.Glu560Gln)
NM_006208.3(ENPP1):c.168G>T (p.Gly56=)
NM_006208.3(ENPP1):c.169G>C (p.Glu57Gln)
NM_006208.3(ENPP1):c.1709A>G (p.Tyr570Cys)
NM_006208.3(ENPP1):c.1724-1G>T
NM_006208.3(ENPP1):c.1724-5T>G rs369585711
NM_006208.3(ENPP1):c.1742C>T (p.Pro581Leu)
NM_006208.3(ENPP1):c.1743G>A (p.Pro581=)
NM_006208.3(ENPP1):c.1777C>G (p.His593Asp)
NM_006208.3(ENPP1):c.1780C>T (p.Leu594Phe)
NM_006208.3(ENPP1):c.1811A>G (p.His604Arg)
NM_006208.3(ENPP1):c.1880C>T (p.Ser627Leu)
NM_006208.3(ENPP1):c.191C>T (p.Ala64Val)
NM_006208.3(ENPP1):c.1946-14T>C rs886061067
NM_006208.3(ENPP1):c.1952T>C (p.Ile651Thr)
NM_006208.3(ENPP1):c.195_197delinsAA (p.Ala66fs)
NM_006208.3(ENPP1):c.1962T>A (p.His654Gln)
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) rs2114643507
NM_006208.3(ENPP1):c.2008A>G (p.Thr670Ala)
NM_006208.3(ENPP1):c.2052C>G (p.Ser684Arg)
NM_006208.3(ENPP1):c.2100T>C (p.Asn700=)
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.2111C>T (p.Ser704Phe)
NM_006208.3(ENPP1):c.2171A>G (p.His724Arg)
NM_006208.3(ENPP1):c.2183T>C (p.Phe728Ser)
NM_006208.3(ENPP1):c.2191A>C (p.Asn731His)
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) rs748292010
NM_006208.3(ENPP1):c.2192del (p.Asn731fs) rs2114726975
NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys)
NM_006208.3(ENPP1):c.219C>G (p.Asn73Lys)
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) rs2114727013
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr)
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) rs587776797
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.2280A>T (p.Thr760=)
NM_006208.3(ENPP1):c.2297A>G (p.Tyr766Cys)
NM_006208.3(ENPP1):c.2312-1G>A
NM_006208.3(ENPP1):c.2316A>G (p.Ile772Met)
NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile)
NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser)
NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys)
NM_006208.3(ENPP1):c.2417G>A (p.Arg806His)
NM_006208.3(ENPP1):c.2426C>T (p.Ser809Phe)
NM_006208.3(ENPP1):c.2429T>C (p.Leu810Ser)
NM_006208.3(ENPP1):c.2430A>C (p.Leu810Phe)
NM_006208.3(ENPP1):c.2444+10T>C rs947631280
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.2466C>G (p.Asn822Lys)
NM_006208.3(ENPP1):c.2478G>T (p.Leu826Phe)
NM_006208.3(ENPP1):c.2479_2482dup (p.Pro828fs)
NM_006208.3(ENPP1):c.2554G>C (p.Asp852His)
NM_006208.3(ENPP1):c.2596G>A (p.Glu866Lys)
NM_006208.3(ENPP1):c.2611G>A (p.Gly871Arg)
NM_006208.3(ENPP1):c.2625C>T (p.Ser875=)
NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter)
NM_006208.3(ENPP1):c.2638G>A (p.Glu880Lys)
NM_006208.3(ENPP1):c.26dup (p.Gly10fs) rs1470739291
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) rs121908249
NM_006208.3(ENPP1):c.274G>T (p.Gly92Cys)
NM_006208.3(ENPP1):c.2774A>G (p.Asp925Gly)
NM_006208.3(ENPP1):c.2T>G (p.Met1Arg)
NM_006208.3(ENPP1):c.304G>T (p.Ala102Ser)
NM_006208.3(ENPP1):c.313+1G>A
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445
NM_006208.3(ENPP1):c.314-10A>G
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006208.3(ENPP1):c.332G>A (p.Arg111His) rs749866787
NM_006208.3(ENPP1):c.340G>A (p.Glu114Lys)
NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)
NM_006208.3(ENPP1):c.362G>T (p.Arg121Leu)
NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg)
NM_006208.3(ENPP1):c.430+1del rs1554278331
NM_006208.3(ENPP1):c.430+3A>G
NM_006208.3(ENPP1):c.464G>A (p.Gly155Asp)
NM_006208.3(ENPP1):c.502G>C (p.Asp168His)
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) rs1805101
NM_006208.3(ENPP1):c.574del (p.Glu192fs) rs1234826768
NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser)
NM_006208.3(ENPP1):c.590G>A (p.Ser197Asn)
NM_006208.3(ENPP1):c.597T>A (p.Asn199Lys)
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) rs752171315
NM_006208.3(ENPP1):c.602C>G (p.Pro201Arg)
NM_006208.3(ENPP1):c.659T>A (p.Phe220Tyr)
NM_006208.3(ENPP1):c.6del (p.Glu2fs)
NM_006208.3(ENPP1):c.73G>C (p.Ala25Pro)
NM_006208.3(ENPP1):c.742A>G (p.Met248Val)
NM_006208.3(ENPP1):c.744G>A (p.Met248Ile)
NM_006208.3(ENPP1):c.769_770del (p.Phe257fs)
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006208.3(ENPP1):c.820A>T (p.Ile274Leu)
NM_006208.3(ENPP1):c.82G>C (p.Gly28Arg)
NM_006208.3(ENPP1):c.895G>C (p.Glu299Gln)
NM_006208.3(ENPP1):c.915+1G>A rs2114702198

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