ClinVar Miner

List of variants reported as uncertain significance 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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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00027
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006208.3(ENPP1):c.502G>C (p.Asp168His) rs751033384 0.00015
NM_006208.3(ENPP1):c.1405T>C (p.Phe469Leu) rs144560255 0.00011
NM_006208.3(ENPP1):c.103C>T (p.His35Tyr) rs939523816 0.00009
NM_006208.3(ENPP1):c.145T>A (p.Leu49Met) rs1239569122 0.00009
NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln) rs776045926 0.00007
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00007
NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys) rs770659674 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly) rs1416080494 0.00003
NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg) rs371695495 0.00003
NM_006208.3(ENPP1):c.1743G>A (p.Pro581=) rs201696973 0.00002
NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys) rs1163116799 0.00002
NM_006208.3(ENPP1):c.2466C>G (p.Asn822Lys) rs368946895 0.00002
NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr) rs771405037 0.00002
NM_006208.3(ENPP1):c.1038T>G (p.Phe346Leu) rs1282271247 0.00001
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.1735T>G (p.Leu579Val) rs144209970 0.00001
NM_006208.3(ENPP1):c.236C>T (p.Ser79Leu) rs1320639230 0.00001
NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile) rs754738543 0.00001
NM_006208.3(ENPP1):c.2625C>T (p.Ser875=) rs754589232 0.00001
NM_006208.3(ENPP1):c.430+3A>G rs1228035722 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.1120G>A (p.Glu374Lys)
NM_006208.3(ENPP1):c.1133C>T (p.Ser378Leu)
NM_006208.3(ENPP1):c.1189G>A (p.Asp397Asn)
NM_006208.3(ENPP1):c.1303A>G (p.Ile435Val)
NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe) rs767598458
NM_006208.3(ENPP1):c.1379C>G (p.Ser460Cys)
NM_006208.3(ENPP1):c.1418G>A (p.Gly473Asp)
NM_006208.3(ENPP1):c.1438-3C>G rs752211779
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.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) rs1658912715
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) rs748292010
NM_006208.3(ENPP1):c.219C>G (p.Asn73Lys)
NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr) rs144099489
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.2316A>G (p.Ile772Met)
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.2478G>T (p.Leu826Phe)
NM_006208.3(ENPP1):c.2554G>C (p.Asp852His)
NM_006208.3(ENPP1):c.2611G>A (p.Gly871Arg)
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.304G>T (p.Ala102Ser)
NM_006208.3(ENPP1):c.314-10A>G
NM_006208.3(ENPP1):c.340G>A (p.Glu114Lys)
NM_006208.3(ENPP1):c.362G>T (p.Arg121Leu)
NM_006208.3(ENPP1):c.464G>A (p.Gly155Asp)
NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser) rs926768412
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.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.820A>T (p.Ile274Leu)
NM_006208.3(ENPP1):c.82G>C (p.Gly28Arg)
NM_006208.3(ENPP1):c.895G>C (p.Glu299Gln) rs1178240876

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