ClinVar Miner

List of variants reported as likely benign for arterial calcification, generalized, of infancy, 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_006208.3(ENPP1):c.-24G>C rs1800948 0.02445
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_006208.3(ENPP1):c.*2076C>T rs117531639 0.01090
NM_006208.3(ENPP1):c.*1122A>G rs148507889 0.00539
NM_006208.3(ENPP1):c.*3176T>A rs114333444 0.00525
NM_006208.3(ENPP1):c.*1038T>A rs79214335 0.00496
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683 0.00299
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_006208.3(ENPP1):c.*3528C>T rs557822175 0.00161
NM_006208.3(ENPP1):c.*1307T>G rs189263683 0.00117
NM_006208.3(ENPP1):c.*4015G>A rs531152298 0.00116
NM_006208.3(ENPP1):c.2101-10del rs200562612 0.00116
NM_006208.3(ENPP1):c.*804A>G rs114078048 0.00098
NM_006208.3(ENPP1):c.*2698G>A rs146550172 0.00023
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.*150G>A rs571779819
NM_006208.3(ENPP1):c.*2835_*2837del rs143885750
NM_006208.3(ENPP1):c.*3242TTCTT[4] rs3035998

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