ClinVar Miner

List of variants in gene ENPP1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.1405+236A>G rs4897548 0.33847
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.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.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 0.00010
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.1028C>A (p.Ser343Ter)
NM_006208.3(ENPP1):c.1165-210T>C rs17060836
NM_006208.3(ENPP1):c.1165-76del rs879176917
NM_006208.3(ENPP1):c.1406-255A>G rs9493115
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.1893+141G>A rs41286150
NM_006208.3(ENPP1):c.1893+210C>T rs41286152
NM_006208.3(ENPP1):c.1894-204C>G rs75254665
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.2230+128TA[3] rs3036847
NM_006208.3(ENPP1):c.2230+177_2230+178del rs10589841
NM_006208.3(ENPP1):c.2231-209C>G rs9493117
NM_006208.3(ENPP1):c.2317T>C (p.Trp773Arg)
NM_006208.3(ENPP1):c.2607+101_2607+102insCTT rs10692757
NM_006208.3(ENPP1):c.2607+199_2607+200insCATT rs10692758
NM_006208.3(ENPP1):c.2607+222del rs60409660
NM_006208.3(ENPP1):c.2608-63A>G rs9493119
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.314-124C>G rs114868782
NM_006208.3(ENPP1):c.359G>C (p.Cys120Ser)
NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg)
NM_006208.3(ENPP1):c.796-2A>G
NM_006208.3(ENPP1):c.939A>C (p.Gln313His)

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