ClinVar Miner

List of variants in gene ENPP1 studied for Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) rs2114643507
NM_006208.3(ENPP1):c.2192del (p.Asn731fs) rs2114726975
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) rs2114727013
NM_006208.3(ENPP1):c.26dup (p.Gly10fs) rs1470739291
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) rs1805101
NM_006208.3(ENPP1):c.574del (p.Glu192fs) rs1234826768
NM_006208.3(ENPP1):c.915+1G>A rs2114702198

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