ClinVar Miner

List of variants in gene ENPP1 reported as likely benign for arterial calcification, generalized, of infancy, 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_006208.3(ENPP1):c.*1038T>A rs79214335
NM_006208.3(ENPP1):c.*1122A>G rs148507889
NM_006208.3(ENPP1):c.*1307T>G
NM_006208.3(ENPP1):c.*150G>A
NM_006208.3(ENPP1):c.*2076C>T rs117531639
NM_006208.3(ENPP1):c.*2698G>A rs146550172
NM_006208.3(ENPP1):c.*2835_*2837del rs143885750
NM_006208.3(ENPP1):c.*3176T>A rs114333444
NM_006208.3(ENPP1):c.*3242_*3246TTCTT[4] rs3035998
NM_006208.3(ENPP1):c.*3528C>T rs557822175
NM_006208.3(ENPP1):c.*4015G>A rs531152298
NM_006208.3(ENPP1):c.*804A>G
NM_006208.3(ENPP1):c.-24G>C rs1800948
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819
NM_006208.3(ENPP1):c.2101-10del rs200562612
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508

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