ClinVar Miner

List of variants in gene ENPP1 reported as likely pathogenic for arterial calcification of infancy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) rs137853273 0.00004
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn) rs748798632 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala) rs1562523328
NM_006208.3(ENPP1):c.2746del (p.Thr916fs)
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006208.3(ENPP1):c.796G>A (p.Gly266Arg) rs2114702042

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