ClinVar Miner

List of variants in gene ENPP1 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
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.313+10T>G rs202225018 0.00059
NM_006208.3(ENPP1):c.860C>T (p.Ser287Phe) rs190947144 0.00031
NM_006208.3(ENPP1):c.120C>T (p.Pro40=) rs553929139 0.00020
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.716-15T>C rs751158406 0.00011
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.1352A>G (p.Tyr451Cys) rs201519006 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.2415A>T (p.Gly805=) rs150970657 0.00005
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.1998G>A (p.Gln666=) rs140470927 0.00003
NM_006208.3(ENPP1):c.2079A>G (p.Thr693=) rs768610723 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.1164+9A>G rs571952564 0.00001
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) rs1452598874 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.2379C>T (p.Val793=) rs755592935 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.795+12A>G rs1781980876 0.00001
NM_006208.3(ENPP1):c.990C>T (p.Asn330=) rs758973448 0.00001
NM_006208.3(ENPP1):c.1026-9T>G
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.1107T>C (p.Thr369=)
NM_006208.3(ENPP1):c.117G>T (p.Ala39=)
NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr)
NM_006208.3(ENPP1):c.1266A>T (p.Ser422=)
NM_006208.3(ENPP1):c.1290T>C (p.Ser430=)
NM_006208.3(ENPP1):c.1321T>C (p.Leu441=)
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.1503T>C (p.Phe501=)
NM_006208.3(ENPP1):c.1506T>C (p.Ala502=)
NM_006208.3(ENPP1):c.1560T>A (p.Leu520=)
NM_006208.3(ENPP1):c.1563A>C (p.Ala521=)
NM_006208.3(ENPP1):c.1635+16A>G
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.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.1755C>T (p.Asn585=)
NM_006208.3(ENPP1):c.1803G>A (p.Thr601=)
NM_006208.3(ENPP1):c.1857C>T (p.Asn619=)
NM_006208.3(ENPP1):c.1893+10G>A
NM_006208.3(ENPP1):c.1893+9C>T
NM_006208.3(ENPP1):c.1894-19G>C
NM_006208.3(ENPP1):c.1902G>A (p.Pro634=)
NM_006208.3(ENPP1):c.1945+19T>C
NM_006208.3(ENPP1):c.2010C>T (p.Thr670=)
NM_006208.3(ENPP1):c.2100+15C>T
NM_006208.3(ENPP1):c.2101-9G>A
NM_006208.3(ENPP1):c.2187T>C (p.Tyr729=)
NM_006208.3(ENPP1):c.2211C>T (p.Tyr737=)
NM_006208.3(ENPP1):c.2231-17C>T
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
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.2312-12A>G
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.2427C>G (p.Ser809=)
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.2451A>G (p.Arg817=)
NM_006208.3(ENPP1):c.2490C>T (p.His830=) rs2114731537
NM_006208.3(ENPP1):c.249A>G (p.Ser83=)
NM_006208.3(ENPP1):c.2532G>A (p.Thr844=)
NM_006208.3(ENPP1):c.2556C>T (p.Asp852=)
NM_006208.3(ENPP1):c.2607+16A>G
NM_006208.3(ENPP1):c.2608-20_2608-18del rs768023537
NM_006208.3(ENPP1):c.2625C>T (p.Ser875=)
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.2676T>G (p.Val892=)
NM_006208.3(ENPP1):c.2712A>G (p.Arg904=)
NM_006208.3(ENPP1):c.2740T>C (p.Leu914=)
NM_006208.3(ENPP1):c.2760C>T (p.Thr920=)
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+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+9_313+11del rs779101536
NM_006208.3(ENPP1):c.314-11A>G
NM_006208.3(ENPP1):c.314-16C>T
NM_006208.3(ENPP1):c.314-17T>C
NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)
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.501A>T (p.Ser167=)
NM_006208.3(ENPP1):c.531C>T (p.Cys177=)
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.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.6G>A (p.Glu2=)
NM_006208.3(ENPP1):c.716-4C>A
NM_006208.3(ENPP1):c.732T>C (p.Tyr244=)
NM_006208.3(ENPP1):c.750G>C (p.Pro250=) rs368742582
NM_006208.3(ENPP1):c.87C>G (p.Arg29=)
NM_006208.3(ENPP1):c.897G>A (p.Glu299=)
NM_006208.3(ENPP1):c.942C>A (p.Gly314=)
NM_006208.3(ENPP1):c.999C>T (p.Phe333=)

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