ClinVar Miner

List of variants in gene ENPP1 reported as uncertain significance for arterial calcification, generalized, of infancy, 1

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NM_006208.3(ENPP1):c.*103A>G
NM_006208.3(ENPP1):c.*1105T>C
NM_006208.3(ENPP1):c.*1125G>T
NM_006208.3(ENPP1):c.*120C>T
NM_006208.3(ENPP1):c.*1221A>G rs537272519
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.*1499C>T rs541116091
NM_006208.3(ENPP1):c.*1525T>G
NM_006208.3(ENPP1):c.*1618A>G
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.*2073C>G
NM_006208.3(ENPP1):c.*2129T>C rs886061075
NM_006208.3(ENPP1):c.*2130C>T rs886061076
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.*2966C>G
NM_006208.3(ENPP1):c.*3126C>T rs886061078
NM_006208.3(ENPP1):c.*3450T>C rs886061081
NM_006208.3(ENPP1):c.*3468del rs564304453
NM_006208.3(ENPP1):c.*3600G>T
NM_006208.3(ENPP1):c.*3602C>T
NM_006208.3(ENPP1):c.*3718C>T
NM_006208.3(ENPP1):c.*3885C>T
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.*4014C>A
NM_006208.3(ENPP1):c.*4047C>T
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.*4586G>A rs886061083
NM_006208.3(ENPP1):c.*459G>T rs886061068
NM_006208.3(ENPP1):c.*4620G>T
NM_006208.3(ENPP1):c.*467A>C rs866470811
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.*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.*772A>G rs34608785
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.1056T>G (p.Ala352=) rs150279426
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg) rs751147622
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn)
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) rs886061066
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.157A>G (p.Met53Val)
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) rs1452598874
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
NM_006208.3(ENPP1):c.1724-5T>G
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118
NM_006208.3(ENPP1):c.1946-14T>C rs886061067
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=)
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573
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.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) rs367759638
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669
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+9GT[16] rs59956343
NM_006208.3(ENPP1):c.313+9GT[17] 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.332G>A (p.Arg111His) rs749866787
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser)
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196
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.802T>C (p.Tyr268His) rs17847050

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