ClinVar Miner

List of variants in gene ENPP1 reported as benign for Hypophosphatemic rickets, autosomal recessive, 2

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.*1972G>C rs1931006 0.57374
NM_006208.3(ENPP1):c.*3724C>T rs2327154 0.46831
NM_006208.3(ENPP1):c.*1157C>T rs7754859 0.44164
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44163
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_006208.3(ENPP1):c.*1091A>C rs7754586 0.28727
NM_006208.3(ENPP1):c.*3511T>C rs9483350 0.16375
NM_006208.3(ENPP1):c.*3837T>C rs55725924 0.16101
NM_006208.3(ENPP1):c.*1539A>G rs9493121 0.15981
NM_006208.3(ENPP1):c.*1350G>A rs9493120 0.12565
NM_006208.3(ENPP1):c.*563G>A rs1044586 0.12391
NM_006208.3(ENPP1):c.*1137T>C rs11154648 0.12356
NM_006208.3(ENPP1):c.*777C>T rs34836463 0.12355
NM_006208.3(ENPP1):c.*457T>A rs1044582 0.12353
NM_006208.3(ENPP1):c.*699T>A rs34142005 0.12323
NM_006208.3(ENPP1):c.*112G>A rs1044548 0.12306
NM_006208.3(ENPP1):c.*1101G>T rs11154647 0.11712
NM_006208.3(ENPP1):c.*163C>T rs1044558 0.10959
NM_006208.3(ENPP1):c.*389G>A rs553 0.10942
NM_006208.3(ENPP1):c.*3271C>G rs1510 0.09857
NM_006208.3(ENPP1):c.*4636C>T rs11963615 0.08326
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07293
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_006208.3(ENPP1):c.*3838G>A rs59958908 0.05378
NM_006208.3(ENPP1):c.*1670T>C rs9493122 0.04663
NM_006208.3(ENPP1):c.*735A>G rs12212882 0.04659
NM_006208.3(ENPP1):c.*1348T>C rs9483349 0.04649
NM_006208.3(ENPP1):c.*2282G>A rs73778612 0.04080
NM_006208.3(ENPP1):c.*3017C>T rs1931009 0.03849
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_006208.3(ENPP1):c.*2036A>G rs73778611 0.03411
NM_006208.3(ENPP1):c.*3706G>A rs12205225 0.03174
NM_006208.3(ENPP1):c.*772A>T rs34608785 0.02778
NM_006208.3(ENPP1):c.*3784T>C rs116417632 0.02593
NM_006208.3(ENPP1):c.*3625G>A rs150482147 0.02399
NM_006208.3(ENPP1):c.*477A>T rs113086095 0.01661
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070 0.01493
NM_006208.3(ENPP1):c.*3163C>T rs55670720 0.01449
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_006208.3(ENPP1):c.*2900G>T rs78495668 0.01335
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01226
NM_006208.3(ENPP1):c.*2301A>G rs115728089 0.01180
NM_006208.3(ENPP1):c.*1224A>G rs115623040 0.00854
NM_006208.3(ENPP1):c.*4248G>A rs150587148 0.00820
NM_006208.3(ENPP1):c.*400C>A rs55828988 0.00811
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_006208.3(ENPP1):c.*3879A>G rs144511581 0.00201
NM_006208.3(ENPP1):c.*4064T>C rs141760620 0.00200
NM_006208.3(ENPP1):c.*1236G>T rs11154649 0.00176
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_006208.3(ENPP1):c.*3594C>T rs140569538 0.00139
NM_006208.3(ENPP1):c.*2737C>T rs545095322 0.00086
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_006208.3(ENPP1):c.*1559G>T rs551333973 0.00075
NM_006208.3(ENPP1):c.*4571G>C rs574559068 0.00004
NM_006208.3(ENPP1):c.*4641A>G rs545401301 0.00004
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.2101-11del rs397832689

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