ClinVar Miner

List of variants studied for arterial calcification, generalized, of infancy, 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP
ENPP1, 2-BP DEL, 878AA
NM_006208.3(ENPP1):c.*1038T>A rs79214335
NM_006208.3(ENPP1):c.*103A>G
NM_006208.3(ENPP1):c.*1043A>G rs7754561
NM_006208.3(ENPP1):c.*1091A>C rs7754586
NM_006208.3(ENPP1):c.*1101G>T rs11154647
NM_006208.3(ENPP1):c.*1105T>C
NM_006208.3(ENPP1):c.*1122A>G rs148507889
NM_006208.3(ENPP1):c.*1125G>T
NM_006208.3(ENPP1):c.*112G>A rs1044548
NM_006208.3(ENPP1):c.*1137T>C rs11154648
NM_006208.3(ENPP1):c.*1157C>T rs7754859
NM_006208.3(ENPP1):c.*120C>T
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1221A>G rs537272519
NM_006208.3(ENPP1):c.*1224A>G
NM_006208.3(ENPP1):c.*1236G>T rs11154649
NM_006208.3(ENPP1):c.*1236_*1238del rs138970138
NM_006208.3(ENPP1):c.*1239T>C
NM_006208.3(ENPP1):c.*1240T>C rs758925757
NM_006208.3(ENPP1):c.*1256dup rs34545497
NM_006208.3(ENPP1):c.*1257del rs886061072
NM_006208.3(ENPP1):c.*128C>T
NM_006208.3(ENPP1):c.*1290T>A rs886061073
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.*1307T>G
NM_006208.3(ENPP1):c.*1348T>C rs9483349
NM_006208.3(ENPP1):c.*1350G>A rs9493120
NM_006208.3(ENPP1):c.*1499C>T rs541116091
NM_006208.3(ENPP1):c.*150G>A
NM_006208.3(ENPP1):c.*1525T>G
NM_006208.3(ENPP1):c.*1539A>G rs9493121
NM_006208.3(ENPP1):c.*1559G>T rs551333973
NM_006208.3(ENPP1):c.*1618A>G
NM_006208.3(ENPP1):c.*163C>T rs1044558
NM_006208.3(ENPP1):c.*1670T>C rs9493122
NM_006208.3(ENPP1):c.*1716G>A
NM_006208.3(ENPP1):c.*1795A>T rs886061074
NM_006208.3(ENPP1):c.*1858C>G
NM_006208.3(ENPP1):c.*1864T>C
NM_006208.3(ENPP1):c.*1940T>G
NM_006208.3(ENPP1):c.*1960C>T rs538657283
NM_006208.3(ENPP1):c.*1972G>C rs1931006
NM_006208.3(ENPP1):c.*2036A>G rs73778611
NM_006208.3(ENPP1):c.*2073C>G
NM_006208.3(ENPP1):c.*2076C>T rs117531639
NM_006208.3(ENPP1):c.*2129T>C rs886061075
NM_006208.3(ENPP1):c.*2130C>T rs886061076
NM_006208.3(ENPP1):c.*2282G>A rs73778612
NM_006208.3(ENPP1):c.*2301A>G rs115728089
NM_006208.3(ENPP1):c.*2342G>T rs570500845
NM_006208.3(ENPP1):c.*2543T>G
NM_006208.3(ENPP1):c.*2564A>G
NM_006208.3(ENPP1):c.*2698G>A rs146550172
NM_006208.3(ENPP1):c.*2737C>T rs545095322
NM_006208.3(ENPP1):c.*2835_*2837del rs143885750
NM_006208.3(ENPP1):c.*2900G>T rs78495668
NM_006208.3(ENPP1):c.*2966C>G
NM_006208.3(ENPP1):c.*3017C>T rs1931009
NM_006208.3(ENPP1):c.*3126C>T rs886061078
NM_006208.3(ENPP1):c.*3163C>T rs55670720
NM_006208.3(ENPP1):c.*3176T>A rs114333444
NM_006208.3(ENPP1):c.*3242_*3246TTCTT[4] rs3035998
NM_006208.3(ENPP1):c.*3271C>G rs1510
NM_006208.3(ENPP1):c.*3450T>C rs886061081
NM_006208.3(ENPP1):c.*3468del rs564304453
NM_006208.3(ENPP1):c.*3511T>C rs9483350
NM_006208.3(ENPP1):c.*3528C>T rs557822175
NM_006208.3(ENPP1):c.*3594C>T rs140569538
NM_006208.3(ENPP1):c.*3600G>T
NM_006208.3(ENPP1):c.*3602C>T
NM_006208.3(ENPP1):c.*3615dup rs112718541
NM_006208.3(ENPP1):c.*3625G>A rs150482147
NM_006208.3(ENPP1):c.*3706G>A rs12205225
NM_006208.3(ENPP1):c.*3718C>T
NM_006208.3(ENPP1):c.*3724C>T rs2327154
NM_006208.3(ENPP1):c.*3784T>C rs116417632
NM_006208.3(ENPP1):c.*3837T>C rs55725924
NM_006208.3(ENPP1):c.*3838G>A rs59958908
NM_006208.3(ENPP1):c.*3879A>G
NM_006208.3(ENPP1):c.*3885C>T
NM_006208.3(ENPP1):c.*389G>A rs553
NM_006208.3(ENPP1):c.*38G>A rs191654371
NM_006208.3(ENPP1):c.*3919C>T
NM_006208.3(ENPP1):c.*3920G>A
NM_006208.3(ENPP1):c.*392G>A
NM_006208.3(ENPP1):c.*400C>A
NM_006208.3(ENPP1):c.*4014C>A
NM_006208.3(ENPP1):c.*4015G>A rs531152298
NM_006208.3(ENPP1):c.*4047C>T
NM_006208.3(ENPP1):c.*4064T>C
NM_006208.3(ENPP1):c.*4248G>A rs150587148
NM_006208.3(ENPP1):c.*4287G>A
NM_006208.3(ENPP1):c.*4332C>T
NM_006208.3(ENPP1):c.*4346T>A rs374532158
NM_006208.3(ENPP1):c.*4369C>T
NM_006208.3(ENPP1):c.*4471C>T
NM_006208.3(ENPP1):c.*4507A>G
NM_006208.3(ENPP1):c.*4571G>C rs574559068
NM_006208.3(ENPP1):c.*457T>A rs1044582
NM_006208.3(ENPP1):c.*4586G>A rs886061083
NM_006208.3(ENPP1):c.*459G>T rs886061068
NM_006208.3(ENPP1):c.*4620G>T
NM_006208.3(ENPP1):c.*4636C>T rs11963615
NM_006208.3(ENPP1):c.*4641A>G rs545401301
NM_006208.3(ENPP1):c.*467A>C rs866470811
NM_006208.3(ENPP1):c.*477A>T
NM_006208.3(ENPP1):c.*485C>A rs563326994
NM_006208.3(ENPP1):c.*516T>C
NM_006208.3(ENPP1):c.*536T>C rs184796209
NM_006208.3(ENPP1):c.*563G>A rs1044586
NM_006208.3(ENPP1):c.*577G>A
NM_006208.3(ENPP1):c.*637A>C rs552323303
NM_006208.3(ENPP1):c.*657A>G
NM_006208.3(ENPP1):c.*671T>C
NM_006208.3(ENPP1):c.*698_*699insA rs113083049
NM_006208.3(ENPP1):c.*699T>A rs34142005
NM_006208.3(ENPP1):c.*735A>G rs12212882
NM_006208.3(ENPP1):c.*772A>G rs34608785
NM_006208.3(ENPP1):c.*772A>T rs34608785
NM_006208.3(ENPP1):c.*777C>T rs34836463
NM_006208.3(ENPP1):c.*804A>G
NM_006208.3(ENPP1):c.*848T>C
NM_006208.3(ENPP1):c.*888C>T rs886061069
NM_006208.3(ENPP1):c.*902G>A
NM_006208.3(ENPP1):c.*910C>G rs180843359
NM_006208.3(ENPP1):c.*96C>T rs147396850
NM_006208.3(ENPP1):c.-10C>T rs750410843
NM_006208.3(ENPP1):c.-13G>A rs535293574
NM_006208.3(ENPP1):c.-24G>C rs1800948
NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala) rs1562523328
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg)
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs) rs1554203715
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn)
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe) rs121918026
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) rs886061066
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) rs536023117
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) rs754866098
NM_006208.3(ENPP1):c.1566-14T>C rs75272847
NM_006208.3(ENPP1):c.157A>G (p.Met53Val)
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His) rs387906673
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=)
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
NM_006208.3(ENPP1):c.1724-5T>G
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe) rs121918024
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269
NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn)
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368
NM_006208.3(ENPP1):c.1946-14T>C rs886061067
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=)
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573
NM_006208.3(ENPP1):c.2101-10del rs200562612
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.2101-2A>T
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser)
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr)
NM_006208.3(ENPP1):c.21G>T (p.Ala7=) rs886061063
NM_006208.3(ENPP1):c.2230+13C>T rs537428242
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys)
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)
NM_006208.3(ENPP1):c.2415A>T (p.Gly805=)
NM_006208.3(ENPP1):c.2444+10T>C
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) rs121918023
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508
NM_006208.3(ENPP1):c.313+10T>G rs202225018
NM_006208.3(ENPP1):c.313+11G>T
NM_006208.3(ENPP1):c.313+13G>T
NM_006208.3(ENPP1):c.313+15G>T
NM_006208.3(ENPP1):c.313+8_313+9insTT rs879243445
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT rs879243445
NM_006208.3(ENPP1):c.313+9G>T rs7773477
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[22] rs59956343
NM_006208.3(ENPP1):c.313+9_313+10insGGTG rs536901634
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.443C>G (p.Thr148Ser)
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498
NM_006208.3(ENPP1):c.522C>T (p.Gly174=)
NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser)
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser)
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) rs267606784
NM_006208.3(ENPP1):c.795+1G>A rs753851892
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) rs17847050
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497

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