ClinVar Miner

List of variants studied for Tumoral calcinosis, hyperphosphatemic, familial, 3 by Illumina Laboratory Services, Illumina

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_004795.4(KL):c.2619T>C (p.Asn873=) rs649964 0.97241
NM_004795.4(KL):c.273T>C (p.Asp91=) rs2772364 0.94886
NM_004795.4(KL):c.2247T>C (p.Ala749=) rs648202 0.76595
NM_004795.4(KL):c.1767C>T (p.His589=) rs564481 0.30857
NM_004795.4(KL):c.1155G>A (p.Lys385=) rs9527026 0.15795
NM_004795.4(KL):c.1109G>C (p.Cys370Ser) rs9527025 0.15638
NM_004795.4(KL):c.1054T>G (p.Phe352Val) rs9536314 0.15619
NM_004795.4(KL):c.1593C>T (p.Tyr531=) rs62637617 0.02834
NM_004795.4(KL):c.*1286A>G rs41292181 0.02431
NM_004795.4(KL):c.1540C>T (p.Pro514Ser) rs3752472 0.01461
NM_004795.4(KL):c.*543G>A rs116819287 0.01299
NM_004795.4(KL):c.*510C>T rs77813367 0.01271
NM_004795.4(KL):c.*1664T>C rs116627995 0.01270
NM_004795.4(KL):c.1407T>C (p.Gly469=) rs138916294 0.01262
NM_004795.4(KL):c.*1455A>G rs77174048 0.01181
NM_004795.4(KL):c.140G>A (p.Arg47Gln) rs201936594 0.01179
NM_004795.4(KL):c.*407T>C rs75520088 0.01175
NM_004795.4(KL):c.*722T>C rs183407162 0.01088
NM_004795.4(KL):c.326T>G (p.Leu109Arg) rs35239775 0.00798
NM_004795.4(KL):c.595C>T (p.Arg199Cys) rs200063460 0.00769
NM_004795.4(KL):c.*1619T>C rs114924800 0.00745
NM_004795.4(KL):c.320C>T (p.Ala107Val) rs115511178 0.00702
NM_004795.4(KL):c.607G>T (p.Ala203Ser) rs116289670 0.00657
NM_004795.4(KL):c.87C>T (p.Arg29=) rs528826951 0.00634
NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys) rs35328951 0.00553
NM_004795.4(KL):c.393C>A (p.Asn131Lys) rs79554512 0.00458
NM_004795.4(KL):c.327G>C (p.Leu109=) rs116810451 0.00457
NM_004795.4(KL):c.91C>T (p.Leu31=) rs540806300 0.00387
NM_004795.4(KL):c.*1324A>G rs185425841 0.00220
NM_004795.4(KL):c.2626G>A (p.Asp876Asn) rs146235320 0.00186
NM_004795.4(KL):c.*1372T>A rs189084711 0.00144
NM_004795.4(KL):c.*1347C>G rs556051453 0.00143
NM_004795.4(KL):c.2532G>A (p.Gln844=) rs149775738 0.00111
NM_004795.4(KL):c.*380A>G rs191750865 0.00109
NM_004795.4(KL):c.15C>T (p.Ala5=) rs934153273 0.00092
NM_004795.4(KL):c.*32A>G rs373955636 0.00087
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067
NM_004795.4(KL):c.1419G>A (p.Arg473=) rs144181834 0.00052
NM_004795.4(KL):c.1188A>G (p.Gln396=) rs139912465 0.00051
NM_004795.4(KL):c.2571C>A (p.Asn857Lys) rs140707985 0.00048
NM_004795.4(KL):c.*1894T>G rs763468774 0.00042
NM_004795.4(KL):c.*793G>T rs568826729 0.00041
NM_004795.4(KL):c.1945C>T (p.Arg649Cys) rs199843173 0.00037
NM_004795.4(KL):c.*934T>A rs151258919 0.00036
NM_004795.4(KL):c.614G>A (p.Gly205Asp) rs200611452 0.00026
NM_004795.4(KL):c.2298C>G (p.Gly766=) rs141751859 0.00025
NM_004795.4(KL):c.*1766T>G rs568662502 0.00022
NM_004795.4(KL):c.967G>A (p.Val323Ile) rs143344388 0.00022
NM_004795.4(KL):c.387C>T (p.Tyr129=) rs373385333 0.00021
NM_004795.4(KL):c.*466A>T rs770665581 0.00016
NM_004795.4(KL):c.911A>G (p.Asn304Ser) rs745640577 0.00014
NM_004795.4(KL):c.*1565T>C rs886050127 0.00013
NM_004795.4(KL):c.1105C>G (p.Leu369Val) rs142695155 0.00012
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) rs34292549 0.00011
NM_004795.4(KL):c.450C>A (p.Ser150=) rs764992732 0.00011
NM_004795.4(KL):c.476A>G (p.Asn159Ser) rs200218010 0.00011
NM_004795.4(KL):c.511C>A (p.Arg171Ser) rs200517420 0.00011
NM_004795.4(KL):c.*735G>A rs527723516 0.00010
NM_004795.4(KL):c.*771C>T rs886050123 0.00009
NM_004795.4(KL):c.956C>T (p.Ser319Phe) rs138955761 0.00009
NM_004795.4(KL):c.2259G>A (p.Leu753=) rs200040161 0.00007
NM_004795.4(KL):c.747C>T (p.Ala249=) rs563017227 0.00007
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) rs147992424 0.00006
NM_004795.4(KL):c.*853T>C rs1426785432 0.00005
NM_004795.4(KL):c.2904C>T (p.Thr968=) rs762438505 0.00005
NM_004795.4(KL):c.560C>T (p.Pro187Leu) rs761695698 0.00004
NM_004795.4(KL):c.*1728A>G rs556620337 0.00003
NM_004795.4(KL):c.*218G>A rs947191941 0.00003
NM_004795.4(KL):c.*8C>T rs773877611 0.00003
NM_004795.4(KL):c.1860C>A (p.Arg620=) rs995644762 0.00003
NM_004795.4(KL):c.2995C>A (p.Leu999Ile) rs200295310 0.00003
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) rs138511256 0.00002
NM_004795.4(KL):c.2572T>A (p.Trp858Arg) rs757603569 0.00002
NM_004795.4(KL):c.442C>T (p.Arg148Cys) rs868310562 0.00002
NM_004795.4(KL):c.*1486T>C rs1872386469 0.00001
NM_004795.4(KL):c.*174A>G rs886050121 0.00001
NM_004795.4(KL):c.*1750T>C rs886050129 0.00001
NM_004795.4(KL):c.*17A>G rs1308258377 0.00001
NM_004795.4(KL):c.*1950C>A rs886050130 0.00001
NM_004795.4(KL):c.*263A>G rs1872331863 0.00001
NM_004795.4(KL):c.*587G>C rs532213166 0.00001
NM_004795.4(KL):c.1331-3C>A rs748430461 0.00001
NM_004795.4(KL):c.1331-4G>A rs779243484 0.00001
NM_004795.4(KL):c.1374G>C (p.Trp458Cys) rs762838530 0.00001
NM_004795.4(KL):c.1557T>A (p.Phe519Leu) rs750440983 0.00001
NM_004795.4(KL):c.1626C>T (p.Thr542=) rs746870927 0.00001
NM_004795.4(KL):c.1811C>A (p.Pro604His) rs751229348 0.00001
NM_004795.4(KL):c.1848G>A (p.Leu616=) rs1872157300 0.00001
NM_004795.4(KL):c.2300C>G (p.Ser767Cys) rs1872192864 0.00001
NM_004795.4(KL):c.2779C>T (p.Leu927Phe) rs777126851 0.00001
NM_004795.4(KL):c.2874T>G (p.Thr958=) rs746291771 0.00001
NM_004795.4(KL):c.2959G>A (p.Ala987Thr) rs755999183 0.00001
NM_004795.4(KL):c.535C>T (p.Arg179Trp) rs746435085 0.00001
NM_004795.4(KL):c.*1007T>C rs886050124
NM_004795.4(KL):c.*1182T>C rs886050125
NM_004795.4(KL):c.*1509T>G rs886050126
NM_004795.4(KL):c.*1603C>A rs886050128
NM_004795.4(KL):c.*1870G>A rs1000445864
NM_004795.4(KL):c.*203G>T rs763269257
NM_004795.4(KL):c.*26T>G rs886050120
NM_004795.4(KL):c.*810G>A rs535918609
NM_004795.4(KL):c.*93A>C rs1872326031
NM_004795.4(KL):c.1014C>A (p.Pro338=) rs547049483
NM_004795.4(KL):c.1599+14C>G rs886050119
NM_004795.4(KL):c.1718T>C (p.Val573Ala) rs1872148254
NM_004795.4(KL):c.1873G>A (p.Glu625Lys) rs150287359
NM_004795.4(KL):c.191G>A (p.Gly64Asp) rs749006234
NM_004795.4(KL):c.2226C>T (p.Ser742=) rs201355613
NM_004795.4(KL):c.2296G>A (p.Gly766Ser) rs114752661
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) rs114752661
NM_004795.4(KL):c.426C>G (p.Leu142=) rs771447026
NM_004795.4(KL):c.611A>G (p.Tyr204Cys) rs1870383915
NM_004795.4(KL):c.656A>T (p.Tyr219Phe) rs1870387959
NM_004795.4(KL):c.764C>T (p.Pro255Leu) rs1870396175
NM_004795.4(KL):c.802G>A (p.Ala268Thr) rs1271557554
NM_004795.4(KL):c.974G>T (p.Gly325Val) rs1453773670

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