ClinVar Miner

List of variants studied for Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity

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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006208.3(ENPP1):c.2114C>T (p.Thr705Met) rs138032713 0.00016
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 0.00010
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) rs137853273 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr) rs771405037 0.00002
NM_006208.3(ENPP1):c.1164+9A>G rs571952564 0.00001
NM_006208.3(ENPP1):c.1376C>T (p.Pro459Leu) rs1340431392 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1735T>G (p.Leu579Val) rs144209970 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.236C>T (p.Ser79Leu) rs1320639230 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) rs1481378734 0.00001
NM_006208.3(ENPP1):c.1025+14A>T
NM_006208.3(ENPP1):c.1026-15T>A
NM_006208.3(ENPP1):c.102C>G (p.Ser34Arg)
NM_006208.3(ENPP1):c.1038T>G (p.Phe346Leu)
NM_006208.3(ENPP1):c.103C>T (p.His35Tyr)
NM_006208.3(ENPP1):c.1120G>A (p.Glu374Lys)
NM_006208.3(ENPP1):c.1133C>T (p.Ser378Leu)
NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr)
NM_006208.3(ENPP1):c.124del (p.Asp42fs)
NM_006208.3(ENPP1):c.1303A>G (p.Ile435Val)
NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe)
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter) rs1258544339
NM_006208.3(ENPP1):c.1379C>G (p.Ser460Cys)
NM_006208.3(ENPP1):c.1405T>C (p.Phe469Leu)
NM_006208.3(ENPP1):c.1418G>A (p.Gly473Asp)
NM_006208.3(ENPP1):c.1426C>T (p.Arg476Ter)
NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln)
NM_006208.3(ENPP1):c.1438-3C>G
NM_006208.3(ENPP1):c.145T>A (p.Leu49Met)
NM_006208.3(ENPP1):c.1566-15A>G
NM_006208.3(ENPP1):c.1660G>A (p.Gly554Arg)
NM_006208.3(ENPP1):c.1678G>C (p.Glu560Gln)
NM_006208.3(ENPP1):c.168G>T (p.Gly56=)
NM_006208.3(ENPP1):c.169G>C (p.Glu57Gln)
NM_006208.3(ENPP1):c.1709A>G (p.Tyr570Cys)
NM_006208.3(ENPP1):c.1743G>A (p.Pro581=)
NM_006208.3(ENPP1):c.1777C>G (p.His593Asp)
NM_006208.3(ENPP1):c.1780C>T (p.Leu594Phe)
NM_006208.3(ENPP1):c.1811A>G (p.His604Arg)
NM_006208.3(ENPP1):c.1880C>T (p.Ser627Leu)
NM_006208.3(ENPP1):c.191C>T (p.Ala64Val)
NM_006208.3(ENPP1):c.1952T>C (p.Ile651Thr)
NM_006208.3(ENPP1):c.1962T>A (p.His654Gln)
NM_006208.3(ENPP1):c.2008A>G (p.Thr670Ala)
NM_006208.3(ENPP1):c.2052C>G (p.Ser684Arg)
NM_006208.3(ENPP1):c.2100T>C (p.Asn700=)
NM_006208.3(ENPP1):c.2111C>T (p.Ser704Phe)
NM_006208.3(ENPP1):c.2171A>G (p.His724Arg)
NM_006208.3(ENPP1):c.2183T>C (p.Phe728Ser)
NM_006208.3(ENPP1):c.2191A>C (p.Asn731His)
NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys)
NM_006208.3(ENPP1):c.219C>G (p.Asn73Lys)
NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr)
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.2280A>T (p.Thr760=)
NM_006208.3(ENPP1):c.2297A>G (p.Tyr766Cys)
NM_006208.3(ENPP1):c.2312-1G>A
NM_006208.3(ENPP1):c.2316A>G (p.Ile772Met)
NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile)
NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser)
NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys)
NM_006208.3(ENPP1):c.2417G>A (p.Arg806His)
NM_006208.3(ENPP1):c.2426C>T (p.Ser809Phe)
NM_006208.3(ENPP1):c.2429T>C (p.Leu810Ser)
NM_006208.3(ENPP1):c.2430A>C (p.Leu810Phe)
NM_006208.3(ENPP1):c.2466C>G (p.Asn822Lys)
NM_006208.3(ENPP1):c.2478G>T (p.Leu826Phe)
NM_006208.3(ENPP1):c.2479_2482dup (p.Pro828fs)
NM_006208.3(ENPP1):c.2554G>C (p.Asp852His)
NM_006208.3(ENPP1):c.2596G>A (p.Glu866Lys)
NM_006208.3(ENPP1):c.2611G>A (p.Gly871Arg)
NM_006208.3(ENPP1):c.2625C>T (p.Ser875=)
NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter)
NM_006208.3(ENPP1):c.2638G>A (p.Glu880Lys)
NM_006208.3(ENPP1):c.274G>T (p.Gly92Cys)
NM_006208.3(ENPP1):c.2774A>G (p.Asp925Gly)
NM_006208.3(ENPP1):c.2T>G (p.Met1Arg)
NM_006208.3(ENPP1):c.304G>T (p.Ala102Ser)
NM_006208.3(ENPP1):c.313+1G>A
NM_006208.3(ENPP1):c.314-10A>G
NM_006208.3(ENPP1):c.340G>A (p.Glu114Lys)
NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)
NM_006208.3(ENPP1):c.362G>T (p.Arg121Leu)
NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg)
NM_006208.3(ENPP1):c.430+3A>G
NM_006208.3(ENPP1):c.464G>A (p.Gly155Asp)
NM_006208.3(ENPP1):c.502G>C (p.Asp168His)
NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser)
NM_006208.3(ENPP1):c.590G>A (p.Ser197Asn)
NM_006208.3(ENPP1):c.597T>A (p.Asn199Lys)
NM_006208.3(ENPP1):c.602C>G (p.Pro201Arg)
NM_006208.3(ENPP1):c.659T>A (p.Phe220Tyr)
NM_006208.3(ENPP1):c.6del (p.Glu2fs)
NM_006208.3(ENPP1):c.73G>C (p.Ala25Pro)
NM_006208.3(ENPP1):c.742A>G (p.Met248Val)
NM_006208.3(ENPP1):c.744G>A (p.Met248Ile)
NM_006208.3(ENPP1):c.769_770del (p.Phe257fs)
NM_006208.3(ENPP1):c.820A>T (p.Ile274Leu)
NM_006208.3(ENPP1):c.82G>C (p.Gly28Arg)
NM_006208.3(ENPP1):c.895G>C (p.Glu299Gln)

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