ClinVar Miner

List of variants reported as benign for rickets by Illumina Laboratory Services, Illumina

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.*1979C>G rs2544043 0.95138
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_004407.4(DMP1):c.*607A>G rs2627725 0.61047
NM_006208.3(ENPP1):c.*1972G>C rs1931006 0.57374
NM_000376.3(VDR):c.*2143A>T rs2853562 0.57087
NM_000376.3(VDR):c.*308C>A rs739837 0.53268
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_006208.3(ENPP1):c.*3724C>T rs2327154 0.46998
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_006208.3(ENPP1):c.*1157C>T rs7754859 0.44164
NM_000376.3(VDR):c.1056T>C (p.Ile352=) rs731236 0.33962
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_006208.3(ENPP1):c.*1091A>C rs7754586 0.28727
NM_004407.4(DMP1):c.1230G>A (p.Glu410=) rs2615497 0.28028
NM_004407.4(DMP1):c.*35G>A rs2627724 0.27831
NM_020638.3(FGF23):c.*1429A>T rs11063112 0.22976
NM_006208.3(ENPP1):c.*1539A>G rs9493121 0.16942
NM_006208.3(ENPP1):c.*3837T>C rs55725924 0.16400
NM_006208.3(ENPP1):c.*3511T>C rs9483350 0.16375
NM_004407.4(DMP1):c.1218C>T (p.Ser406=) rs2615498 0.15334
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
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.*1101G>T rs11154647 0.12369
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_000376.3(VDR):c.*461G>T rs3847987 0.12128
NM_020638.3(FGF23):c.716C>T (p.Thr239Met) rs7955866 0.11385
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_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_006208.3(ENPP1):c.*4636C>T rs11963615 0.08655
NM_000376.3(VDR):c.*2791G>A rs2853563 0.08064
NM_000376.3(VDR):c.146+8C>T rs10783218 0.07673
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07647
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_006208.3(ENPP1):c.*3838G>A rs59958908 0.05378
NM_004407.4(DMP1):c.*905A>G rs73843105 0.04782
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_004407.4(DMP1):c.*280C>T rs76370957 0.04084
NM_006208.3(ENPP1):c.*2282G>A rs73778612 0.04080
NM_006208.3(ENPP1):c.*3017C>T rs1931009 0.03561
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_006208.3(ENPP1):c.*2036A>G rs73778611 0.03506
NM_006208.3(ENPP1):c.*3706G>A rs12205225 0.03390
NM_000376.3(VDR):c.57C>T (p.Asn19=) rs2228572 0.03209
NM_004407.4(DMP1):c.*457T>C rs6842411 0.02615
NM_004407.4(DMP1):c.*329A>C rs6816379 0.02610
NM_006208.3(ENPP1):c.*3784T>C rs116417632 0.02593
NM_006208.3(ENPP1):c.*3625G>A rs150482147 0.02409
NM_006208.3(ENPP1):c.*477A>T rs113086095 0.01777
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070 0.01601
NM_000376.3(VDR):c.*1226T>C rs11574129 0.01576
NM_004407.4(DMP1):c.*603C>T rs78837592 0.01450
NM_006208.3(ENPP1):c.*3163C>T rs55670720 0.01449
NM_000376.3(VDR):c.*1503G>A rs115591719 0.01430
NM_006208.3(ENPP1):c.*2900G>T rs78495668 0.01409
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01323
NM_000444.6(PHEX):c.-108A>G rs149541983 0.01269
NM_006208.3(ENPP1):c.*2301A>G rs115728089 0.01267
NM_020638.3(FGF23):c.*1079A>G rs13312798 0.01230
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_020638.3(FGF23):c.*23T>G rs13312794 0.00893
NM_006208.3(ENPP1):c.*400C>A rs55828988 0.00861
NM_006208.3(ENPP1):c.*1224A>G rs115623040 0.00854
NM_006208.3(ENPP1):c.*4248G>A rs150587148 0.00820
NM_000376.3(VDR):c.48T>C (p.Phe16=) rs11832059 0.00770
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.*218A>C rs141594056 0.00645
NM_004407.4(DMP1):c.475C>A (p.Gln159Lys) rs79402270 0.00466
NM_020638.3(FGF23):c.*1971T>C rs140798293 0.00403
NM_020638.3(FGF23):c.*1471C>A rs114125104 0.00388
NM_004407.4(DMP1):c.*380C>T rs150349595 0.00387
NM_020638.3(FGF23):c.*1219C>T rs115582772 0.00387
NM_020638.3(FGF23):c.*1316C>A rs138576496 0.00387
NM_020638.3(FGF23):c.*1464T>C rs144700678 0.00387
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) rs13312793 0.00310
NM_020638.3(FGF23):c.*1772G>A rs13312800 0.00298
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
NM_000444.6(PHEX):c.*58C>T rs183223600 0.00262
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_006208.3(ENPP1):c.*3879A>G rs144511581 0.00216
NM_006208.3(ENPP1):c.*4064T>C rs141760620 0.00214
NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) rs8176344 0.00170
NM_020638.3(FGF23):c.*1886C>A rs183802802 0.00169
NM_020638.3(FGF23):c.*553C>A rs80210924 0.00163
NM_020638.3(FGF23):c.*29C>G rs71534281 0.00140
NM_006208.3(ENPP1):c.*3594C>T rs140569538 0.00139
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000444.6(PHEX):c.-126C>G rs185830047 0.00078
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_020638.3(FGF23):c.*235C>T rs566868058 0.00064
NM_020638.3(FGF23):c.*2062A>C rs558079364 0.00028
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) rs144925325 0.00019
NM_006208.3(ENPP1):c.*2737C>T rs545095322 0.00017
NM_020638.3(FGF23):c.*1803C>T rs13312801 0.00012
NM_000444.6(PHEX):c.*361T>C rs182654518 0.00008
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) rs765478662 0.00005
NM_006208.3(ENPP1):c.*1559G>T rs551333973 0.00004
NM_006208.3(ENPP1):c.*4571G>C rs574559068 0.00004
NM_006208.3(ENPP1):c.*4641A>G rs545401301 0.00004
NM_000444.6(PHEX):c.*305G>A rs189715720 0.00002
NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr) rs574215585 0.00001
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) rs573322878 0.00001
NM_000376.3(VDR):c.*1906C>A rs9729
NM_000376.3(VDR):c.*2117_*2122del rs17878969
NM_000376.3(VDR):c.-84+5022C>A rs11168293
NM_000376.3(VDR):c.-84+5133G>C rs11168292
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1236G>T rs11154649
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.*772A>T rs34608785
NM_020638.3(FGF23):c.-53C>G rs187035769

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