ClinVar Miner

List of variants in gene ENPP1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_006208.3(ENPP1):c.313+10del rs778260177 0.00389
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_006208.3(ENPP1):c.199C>G (p.Arg67Gly) rs1017385280 0.00009
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) rs142835743 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.2376T>A (p.Asn792Lys) rs137853273 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.1564T>C (p.Leu522=) rs907688104 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr) rs771405037 0.00002
NM_006208.3(ENPP1):c.1376C>T (p.Pro459Leu) rs1340431392 0.00001
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702 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.236C>T (p.Ser79Leu) rs1320639230 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) rs17847050 0.00001
NM_006208.3(ENPP1):c.1026-3T>A
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.1092-42A>G
NM_006208.3(ENPP1):c.1092-9T>A
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.125A>C (p.Asp42Ala)
NM_006208.3(ENPP1):c.1300T>C (p.Tyr434His)
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.1423G>A (p.Ala475Thr)
NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln)
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
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.1538A>G (p.Tyr513Cys)
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.1635A>G (p.Gln545=)
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.1753A>G (p.Asn585Asp)
NM_006208.3(ENPP1):c.1792C>G (p.Pro598Ala)
NM_006208.3(ENPP1):c.1802C>T (p.Thr601Met)
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.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.1909G>C (p.Asp637His) rs2114722383
NM_006208.3(ENPP1):c.193C>G (p.Arg65Gly)
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.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+8T>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.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.2212G>A (p.Gly738Arg)
NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr)
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
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.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.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.2449AGA[1] (p.Arg818del) rs780709634
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.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.2591A>T (p.Asn864Ile)
NM_006208.3(ENPP1):c.2633T>G (p.Val878Gly)
NM_006208.3(ENPP1):c.265A>G (p.Thr89Ala)
NM_006208.3(ENPP1):c.2663G>A (p.Arg888Gln)
NM_006208.3(ENPP1):c.2699T>C (p.Phe900Ser)
NM_006208.3(ENPP1):c.26G>A (p.Gly9Asp)
NM_006208.3(ENPP1):c.2741T>G (p.Leu914Trp) rs751725130
NM_006208.3(ENPP1):c.2756C>T (p.Pro919Leu)
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.2T>C (p.Met1Thr)
NM_006208.3(ENPP1):c.313+9GT[23] rs59956343
NM_006208.3(ENPP1):c.313+9_313+10insGGTG rs536901634
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.373G>A (p.Ala125Thr)
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+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.502G>C (p.Asp168His)
NM_006208.3(ENPP1):c.516_517delinsGC (p.Asp172_Lys173delinsGluGln)
NM_006208.3(ENPP1):c.544T>G (p.Ser182Ala) rs1195225190
NM_006208.3(ENPP1):c.546T>C (p.Ser182=)
NM_006208.3(ENPP1):c.55G>A (p.Ala19Thr)
NM_006208.3(ENPP1):c.580C>A (p.Pro194Thr) rs2114693565
NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser)
NM_006208.3(ENPP1):c.600G>T (p.Glu200Asp)
NM_006208.3(ENPP1):c.61C>T (p.Arg21Trp)
NM_006208.3(ENPP1):c.664G>A (p.Ala222Thr)
NM_006208.3(ENPP1):c.713T>C (p.Leu238Pro)
NM_006208.3(ENPP1):c.719A>G (p.Lys240Arg)
NM_006208.3(ENPP1):c.766A>G (p.Thr256Ala)
NM_006208.3(ENPP1):c.776A>G (p.Asn259Ser)
NM_006208.3(ENPP1):c.787A>T (p.Ile263Phe)
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.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.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.958T>C (p.Phe320Leu)
NM_006208.3(ENPP1):c.988A>G (p.Asn330Asp)
NM_006208.3(ENPP1):c.98G>A (p.Arg33His)

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