ClinVar Miner

List of variants in gene ITPR3 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_002224.4(ITPR3):c.5979+82A>G rs4640882 0.97352
NM_002224.4(ITPR3):c.160+48T>C rs4713647 0.96986
NM_002224.4(ITPR3):c.3448-24T>C rs2068236 0.93584
NM_002224.4(ITPR3):c.3448-19T>A rs4713652 0.92548
NM_002224.4(ITPR3):c.7459-94T>C rs653536 0.91115
NM_002224.4(ITPR3):c.5308-25T>C rs942637 0.89918
NM_002224.4(ITPR3):c.1887-60T>C rs9380372 0.81881
NM_002224.4(ITPR3):c.1886+113T>C rs4713651 0.81869
NM_002224.4(ITPR3):c.954+63A>G rs9366827 0.81726
NM_002224.4(ITPR3):c.3059-29T>C rs7769838 0.74890
NM_002224.4(ITPR3):c.2729-46G>C rs3736893 0.69491
NM_002224.4(ITPR3):c.6075+16T>C rs942642 0.66963
NM_002224.4(ITPR3):c.3973-8A>G rs4713654 0.65567
NM_002224.4(ITPR3):c.7032+134A>T rs764753 0.60552
NM_002224.4(ITPR3):c.954+33G>A rs2296338 0.57616
NM_002224.4(ITPR3):c.628-166G>A rs2296342 0.56819
NM_002224.4(ITPR3):c.955-114T>C rs3068491 0.53757
NM_002224.4(ITPR3):c.859-64C>T rs2296339 0.50250
NM_002224.4(ITPR3):c.7330+40A>G rs2296740 0.47426
NM_002224.4(ITPR3):c.7624+109A>G rs3818525 0.47108
NM_002224.4(ITPR3):c.7625-216T>C rs3818529 0.47103
NM_002224.4(ITPR3):c.7458+88G>A rs2296742 0.46694
NM_002224.4(ITPR3):c.7306C>G (p.Leu2436Val) rs2229642 0.46656
NM_002224.4(ITPR3):c.2940T>C (p.Asn980=) rs1803831 0.46527
NM_002224.4(ITPR3):c.7459-134G>A rs3818523 0.44873
NM_002224.4(ITPR3):c.6568+42T>C rs2296736 0.43685
NM_002224.4(ITPR3):c.7331-21C>T rs2296741 0.43244
NM_002224.4(ITPR3):c.6695-165C>T rs2296738 0.43064
NM_002224.4(ITPR3):c.7032+91G>C rs764752 0.42074
NM_002224.4(ITPR3):c.7225+160G>A rs4711336 0.41260
NM_002224.4(ITPR3):c.7625-100C>G rs3818530 0.41039
NM_002224.4(ITPR3):c.7624+25G>C rs3818524 0.40960
NM_002224.4(ITPR3):c.6867+59C>T rs3818521 0.40931
NM_002224.4(ITPR3):c.5307+160G>A rs753890 0.39353
NM_002224.4(ITPR3):c.7033-160G>A rs10947430 0.39047
NM_002224.4(ITPR3):c.283-108del rs3831079 0.36362
NM_002224.4(ITPR3):c.2929-174C>T rs2296335 0.36126
NM_002224.4(ITPR3):c.6177+69T>C rs2281916 0.35446
NM_002224.4(ITPR3):c.2586+65G>A rs2274198 0.32847
NM_002224.4(ITPR3):c.1551+187G>A rs1570759 0.27781
NM_002224.4(ITPR3):c.2007-91C>G rs2296336 0.26644
NM_002224.4(ITPR3):c.2268C>T (p.Gly756=) rs2229634 0.26526
NM_002224.4(ITPR3):c.1410-85A>G rs6901411 0.24181
NM_002224.4(ITPR3):c.3207G>A (p.Pro1069=) rs2229637 0.23946
NM_002224.4(ITPR3):c.712-176G>A rs2147658 0.23330
NM_002224.4(ITPR3):c.1148+39G>A rs2296337 0.23273
NM_002224.4(ITPR3):c.4788+103C>T rs2296328 0.23003
NM_002224.4(ITPR3):c.4597+9G>C rs2296331 0.22990
NM_002224.4(ITPR3):c.1714-162T>A rs12662536 0.22691
NM_002224.4(ITPR3):c.529-81T>C rs2296343 0.22089
NM_002224.4(ITPR3):c.3058+224C>T rs9368771 0.22005
NM_002224.4(ITPR3):c.4597+200G>A rs2296330 0.20944
NM_002224.4(ITPR3):c.4476+204G>A rs9469556 0.20436
NM_002224.4(ITPR3):c.283-13T>C rs2274200 0.20268
NM_002224.4(ITPR3):c.3523-166G>T rs2274197 0.19304
NM_002224.4(ITPR3):c.4743C>T (p.Pro1581=) rs942636 0.19022
NM_002224.4(ITPR3):c.6265-106G>C rs2281917 0.18300
NM_002224.4(ITPR3):c.6569-17G>A rs2296737 0.15508
NM_002224.4(ITPR3):c.4788+148T>C rs6915136 0.14473
NM_002224.4(ITPR3):c.4225-9A>G rs9469554 0.14337
NM_002224.4(ITPR3):c.4598-172G>A rs11759011 0.14088
NM_002224.4(ITPR3):c.4224+26C>T rs111990331 0.12813
NM_002224.4(ITPR3):c.4937+30C>G rs35095444 0.12480
NM_002224.4(ITPR3):c.3772-41C>T rs116454384 0.12259
NM_002224.4(ITPR3):c.2190-205A>C rs10947426 0.12131
NM_002224.4(ITPR3):c.90-45G>T rs41271247 0.10326
NM_002224.4(ITPR3):c.4263C>T (p.Tyr1421=) rs11967839 0.09820
NM_002224.4(ITPR3):c.5667+34C>T rs6915878 0.09308
NM_002224.4(ITPR3):c.3648+51C>G rs9469552 0.09045
NM_002224.4(ITPR3):c.858+21G>A rs2296340 0.07582
NM_002224.4(ITPR3):c.3059-88G>A rs35595255 0.07451
NM_002224.4(ITPR3):c.5549G>A (p.Arg1850Gln) rs12528378 0.06377
NM_002224.4(ITPR3):c.1149-29C>T rs55994614 0.05785
NM_002224.4(ITPR3):c.7948-38C>T rs1324966 0.05470
NM_002224.4(ITPR3):c.-48C>T rs55774724 0.04988
NM_002224.4(ITPR3):c.161-34T>C rs78064999 0.04981
NM_002224.4(ITPR3):c.711+41A>G rs41271249 0.04826
NM_002224.4(ITPR3):c.4597+46C>T rs9461898 0.04259
NM_002224.4(ITPR3):c.4477-95C>T rs9461897 0.04249
NM_002224.4(ITPR3):c.4477-104G>C rs9469558 0.04248
NM_002224.4(ITPR3):c.1248+4C>T rs2274199 0.04174
NM_002224.4(ITPR3):c.1148+75G>C rs2894348 0.04163
NM_002224.4(ITPR3):c.4477-99T>C rs112551985 0.03973
NM_002224.4(ITPR3):c.7119C>T (p.Ala2373=) rs35506178 0.03676
NM_002224.4(ITPR3):c.282+158G>A rs9469541 0.02845
NM_002224.4(ITPR3):c.7226-216G>A rs73408301 0.02765
NM_002224.4(ITPR3):c.1131C>T (p.Thr377=) rs2229631 0.02225
NM_002224.4(ITPR3):c.4476+19A>C rs9469555 0.02136
NM_002224.4(ITPR3):c.4167C>T (p.Ser1389=) rs111882381 0.02101
NM_002224.4(ITPR3):c.1713+50del rs76635845 0.01749
NM_002224.4(ITPR3):c.5308-29G>A rs111837784 0.01633
NM_002224.4(ITPR3):c.3649-50G>A rs2274196 0.01523
NM_002224.4(ITPR3):c.2388G>A (p.Pro796=) rs17526232 0.01142
NM_002224.4(ITPR3):c.5617A>G (p.Ile1873Val) rs967128309 0.00001
NM_002224.4(ITPR3):c.1134C>G (p.Asp378Glu) rs2533025237
NM_002224.4(ITPR3):c.1322A>G (p.Asp441Gly)
NM_002224.4(ITPR3):c.1381_1382insT (p.Glu461fs) rs2533032166
NM_002224.4(ITPR3):c.1714-3C>A rs774115645
NM_002224.4(ITPR3):c.175G>A (p.Val59Met) rs2532982303
NM_002224.4(ITPR3):c.2929-175dup rs200309311
NM_002224.4(ITPR3):c.3674T>G (p.Leu1225Arg) rs937655006
NM_002224.4(ITPR3):c.3973-65C>A rs4713653
NM_002224.4(ITPR3):c.4185C>T (p.Asp1395=) rs41271253
NM_002224.4(ITPR3):c.4193C>T (p.Ser1398Phe) rs2533111196
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met) rs1561875704
NM_002224.4(ITPR3):c.445C>T (p.Arg149Trp) rs1237600471
NM_002224.4(ITPR3):c.4476+158del rs747753235
NM_002224.4(ITPR3):c.4598-126del rs57615419
NM_002224.4(ITPR3):c.4789-67G>A rs73408274
NM_002224.4(ITPR3):c.4947_4954del (p.His1650fs)
NM_002224.4(ITPR3):c.5308-193C>A rs28495900
NM_002224.4(ITPR3):c.563T>G (p.Val188Gly) rs2532999434
NM_002224.4(ITPR3):c.5688C>A (p.Asn1896Lys) rs1765221518
NM_002224.4(ITPR3):c.578C>A (p.Pro193His)
NM_002224.4(ITPR3):c.5903A>T (p.Asp1968Val)
NM_002224.4(ITPR3):c.5979+90G>A rs79217630
NM_002224.4(ITPR3):c.5980-195G>C rs943470
NM_002224.4(ITPR3):c.6264+32_6264+35dup rs3831117
NM_002224.4(ITPR3):c.627+16G>A rs113742628
NM_002224.4(ITPR3):c.6281A>C (p.Lys2094Thr) rs2533157836
NM_002224.4(ITPR3):c.6283C>T (p.Gln2095Ter) rs747957701
NM_002224.4(ITPR3):c.6388G>T (p.Asp2130Tyr)
NM_002224.4(ITPR3):c.6664T>C (p.Phe2222Leu)
NM_002224.4(ITPR3):c.6694+96C>G rs11759396
NM_002224.4(ITPR3):c.6695-46G>A rs2296739
NM_002224.4(ITPR3):c.7033-142C>A rs34778247
NM_002224.4(ITPR3):c.7091G>A (p.Arg2364His)
NM_002224.4(ITPR3):c.7147T>C (p.Phe2383Leu) rs2533176151
NM_002224.4(ITPR3):c.772A>G (p.Lys258Glu)
NM_002224.4(ITPR3):c.847T>C (p.Trp283Arg)
NM_002224.4(ITPR3):c.955-120_955-115del rs5875457

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