ClinVar Miner

List of variants in gene LRPPRC reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_133259.4(LRPPRC):c.1650-209A>G rs4245798 0.66887
NM_133259.4(LRPPRC):c.149+276T>C rs12712903 0.66571
NM_133259.4(LRPPRC):c.3149-289C>T rs4952691 0.62443
NM_133259.4(LRPPRC):c.469+166T>G rs10170954 0.62280
NM_133259.4(LRPPRC):c.2896+26C>T rs4952694 0.61459
NM_133259.4(LRPPRC):c.4129-305G>A rs10445885 0.60591
NM_133259.4(LRPPRC):c.2806-110C>A rs4953039 0.60195
NM_133259.4(LRPPRC):c.4128+37G>A rs2955280 0.59328
NM_133259.4(LRPPRC):c.650+269T>G rs7561321 0.58636
NM_133259.4(LRPPRC):c.3365-249G>A rs4953032 0.50933
NM_133259.4(LRPPRC):c.2080-40A>C rs7594526 0.50485
NM_133259.4(LRPPRC):c.3900+100del rs3839036 0.50393
NM_133259.4(LRPPRC):c.1650-295A>G rs4953040 0.49700
NM_133259.4(LRPPRC):c.2296+27T>G rs28394191 0.47876
NM_133259.4(LRPPRC):c.470-302A>G rs6736282 0.40592
NM_133259.4(LRPPRC):c.150-233G>T rs4276071 0.36352
NM_133259.4(LRPPRC):c.651-211C>T rs11691515 0.34626
NM_133259.4(LRPPRC):c.1677+258A>G rs4594494 0.29695
NM_133259.4(LRPPRC):c.2897-262G>A rs4953036 0.29009
NM_133259.4(LRPPRC):c.2504+245T>A rs4263155 0.21708
NM_133259.4(LRPPRC):c.738-70T>C rs17031786 0.21424
NM_133259.4(LRPPRC):c.1155+30A>G rs7593842 0.21391
NM_133259.4(LRPPRC):c.470-132C>G rs6721144 0.21370
NM_133259.4(LRPPRC):c.1843-28T>G rs72877186 0.21363
NM_133259.4(LRPPRC):c.1677+152G>A rs59338949 0.19606
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_133259.4(LRPPRC):c.650+268_650+269insG rs146650073 0.11810
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_133259.4(LRPPRC):c.2505-149T>C rs11899538 0.09619
NM_133259.4(LRPPRC):c.2211-80A>G rs13022151 0.09311
NM_133259.4(LRPPRC):c.2737-230C>G rs62138282 0.09225
NM_133259.4(LRPPRC):c.3901-160A>G rs17496251 0.08933
NM_133259.4(LRPPRC):c.2806-233A>T rs78846015 0.08815
NM_133259.4(LRPPRC):c.3901-175T>C rs62138479 0.08726
NM_133259.4(LRPPRC):c.3826-208A>G rs10495910 0.08707
NM_133259.4(LRPPRC):c.3275+97T>C rs17424482 0.08642
NM_133259.4(LRPPRC):c.2505-303A>G rs17424646 0.08637
NM_133259.4(LRPPRC):c.2805+37G>C rs62138281 0.08608
NM_133259.4(LRPPRC):c.2896+148T>C rs62138280 0.08384
NM_133259.4(LRPPRC):c.650+116G>C rs62135113 0.06868
NM_133259.4(LRPPRC):c.149+57G>T rs62135152 0.06847
NM_133259.4(LRPPRC):c.1582+28T>C rs62135104 0.06827
NM_133259.4(LRPPRC):c.2897-300T>G rs62138273 0.06686
NM_133259.3(LRPPRC):c.-45G>A rs11124961 0.05742
NM_133259.4(LRPPRC):c.1921-54A>T rs35768060 0.04572
NM_133259.4(LRPPRC):c.4129-247_4129-246del rs146126117 0.04211
NM_133259.4(LRPPRC):c.1677+178T>C rs72877192 0.03576
NM_133259.4(LRPPRC):c.651-172G>A rs17031787 0.03070
NM_133259.4(LRPPRC):c.150-208T>C rs10495911 0.03015
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_133259.3(LRPPRC):c.-272G>C rs56763294 0.02638
NC_000002.12:g.43996256A>C rs77353999 0.02591
NM_133259.4(LRPPRC):c.149+156G>T rs78765436 0.02461
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_133259.4(LRPPRC):c.2630-22T>C rs72877173 0.02205
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_133259.4(LRPPRC):c.1736-215A>G rs74944176 0.01982
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_133259.4(LRPPRC):c.3365-206C>T rs72798848 0.01691
NM_133259.4(LRPPRC):c.2505-304C>T rs115771517 0.01571
NM_133259.4(LRPPRC):c.2737-232C>A rs116681792 0.01554
NM_133259.4(LRPPRC):c.347-19A>G rs78083883 0.01512
NM_133259.4(LRPPRC):c.2296+21G>T rs78949539 0.01440
NM_133259.4(LRPPRC):c.1649+297T>A rs13398271 0.01227
NM_133259.4(LRPPRC):c.1920+126C>T rs73925734 0.01225
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_133259.4(LRPPRC):c.2805+124G>A rs78434094 0.01088
NM_133259.4(LRPPRC):c.3900+298C>T rs149390548 0.01019
NM_133259.4(LRPPRC):c.3825+299A>G rs115280310 0.00990
NM_133259.4(LRPPRC):c.3900+259G>T rs144790342 0.00990
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_133259.4(LRPPRC):c.2504+128G>C rs75856196 0.00973
NM_133259.4(LRPPRC):c.4128+165_4128+166del rs141240006 0.00966
NM_133259.4(LRPPRC):c.3275+230T>G rs148988630 0.00933
NM_133259.4(LRPPRC):c.1488+247C>T rs140574844 0.00925
NM_133259.4(LRPPRC):c.1966-54C>A rs79868165 0.00922
NM_133259.4(LRPPRC):c.1583-81T>C rs116196951 0.00900
NM_133259.4(LRPPRC):c.1370-253C>G rs75756419 0.00830
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.1489-177C>T rs112866656 0.00824
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_133259.4(LRPPRC):c.2897-39A>G rs148065865 0.00725
NM_133259.4(LRPPRC):c.865-166T>C rs116623045 0.00702
NM_133259.4(LRPPRC):c.149+65C>T rs574363531 0.00651
NM_133259.4(LRPPRC):c.149+29A>G rs368565167 0.00650
NC_000002.12:g.43996070C>G rs114667369 0.00649
NM_133259.4(LRPPRC):c.149+19T>C rs531535255 0.00649
NM_133259.4(LRPPRC):c.149+49C>T rs559994480 0.00649
NM_133259.4(LRPPRC):c.149+274C>T rs116761124 0.00647
NM_133259.4(LRPPRC):c.149+83G>A rs560971852 0.00647
NM_133259.4(LRPPRC):c.149+215C>T rs114787823 0.00646
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_133259.4(LRPPRC):c.1678-277A>G rs116826260 0.00577
NM_133259.4(LRPPRC):c.470-30del rs201986117 0.00567
NM_133259.4(LRPPRC):c.651-201T>A rs186764561 0.00566
NM_133259.4(LRPPRC):c.1736-14G>A rs116117684 0.00552
NM_133259.4(LRPPRC):c.2505-242G>A rs112276461 0.00457
NM_133259.4(LRPPRC):c.149+20C>G rs540850536 0.00451
NM_133259.4(LRPPRC):c.2211-111C>T rs192108332 0.00427
NM_133259.4(LRPPRC):c.1677+67G>C rs143374182 0.00416
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730 0.00414
NM_133259.4(LRPPRC):c.1920+53G>A rs193107553 0.00364
NM_133259.4(LRPPRC):c.3986-83C>T rs139928056 0.00337
NM_133259.4(LRPPRC):c.1488+40A>T rs201360053 0.00307
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) rs113374262 0.00239
NM_133259.4(LRPPRC):c.3986-31T>G rs2955281 0.00230
NM_133259.4(LRPPRC):c.470-20A>G rs201123932 0.00208
NM_133259.4(LRPPRC):c.738-18T>C rs189675905 0.00173
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=) rs147000685 0.00118
NM_133259.4(LRPPRC):c.149+8C>T rs548205703 0.00098
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922 0.00091
NM_133259.4(LRPPRC):c.-11A>G rs188424940 0.00066
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415 0.00052
NM_133259.4(LRPPRC):c.2271A>G (p.Val757=) rs145963884 0.00046
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_133259.4(LRPPRC):c.1842+10C>T rs373649496 0.00040
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_133259.4(LRPPRC):c.3585C>T (p.Ala1195=) rs139109482 0.00035
NM_133259.4(LRPPRC):c.1488+16G>A rs200299073 0.00032
NM_133259.4(LRPPRC):c.651-15G>A rs375831894 0.00032
NM_133259.4(LRPPRC):c.151G>C (p.Gly51Arg) rs199606252 0.00029
NM_133259.4(LRPPRC):c.66C>T (p.Leu22=) rs769158010 0.00026
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840 0.00024
NM_133259.4(LRPPRC):c.620A>T (p.Tyr207Phe) rs146293544 0.00022
NM_133259.4(LRPPRC):c.2210+10C>T rs200747013 0.00019
NM_133259.4(LRPPRC):c.3365-16T>C rs377145600 0.00019
NM_133259.4(LRPPRC):c.738-9A>T rs201985435 0.00019
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250 0.00019
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510 0.00016
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276 0.00016
NM_133259.4(LRPPRC):c.3825+15C>T rs374967275 0.00015
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_133259.4(LRPPRC):c.2364C>T (p.Ser788=) rs143672315 0.00012
NM_133259.4(LRPPRC):c.242A>G (p.Asn81Ser) rs748138102 0.00011
NM_133259.4(LRPPRC):c.2487C>T (p.Val829=) rs527287371 0.00011
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser) rs373908553 0.00010
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246 0.00010
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val) rs749629864 0.00010
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048 0.00009
NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys) rs1014582333 0.00007
NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu) rs146630100 0.00007
NM_133259.4(LRPPRC):c.723G>A (p.Gly241=) rs371182328 0.00007
NM_133259.4(LRPPRC):c.802G>C (p.Asp268His) rs756849117 0.00007
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser) rs763948159 0.00006
NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr) rs148016991 0.00006
NM_133259.4(LRPPRC):c.3078G>A (p.Ser1026=) rs760063530 0.00006
NM_133259.4(LRPPRC):c.340C>G (p.Arg114Gly) rs376622590 0.00006
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) rs148828179 0.00006
NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys) rs375559765 0.00005
NM_133259.4(LRPPRC):c.1369+20C>T rs371260395 0.00004
NM_133259.4(LRPPRC):c.1753C>T (p.Leu585Phe) rs925345080 0.00004
NM_133259.4(LRPPRC):c.262A>C (p.Met88Leu) rs863224049 0.00004
NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr) rs200611889 0.00004
NM_133259.4(LRPPRC):c.4073G>A (p.Arg1358His) rs373807582 0.00004
NM_133259.4(LRPPRC):c.470-13A>G rs201627660 0.00004
NM_133259.4(LRPPRC):c.1209C>T (p.His403=) rs375528620 0.00003
NM_133259.4(LRPPRC):c.3901-14A>G rs764713386 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu) rs372341254 0.00002
NM_133259.4(LRPPRC):c.2079+10G>A rs545497810 0.00002
NM_133259.4(LRPPRC):c.2629+12T>G rs367880065 0.00002
NM_133259.4(LRPPRC):c.3815C>G (p.Ala1272Gly) rs370011265 0.00002
NM_133259.4(LRPPRC):c.3817C>G (p.Leu1273Val) rs200748493 0.00002
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) rs570349090 0.00002
NM_133259.4(LRPPRC):c.-33G>A rs1162042995 0.00001
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_133259.4(LRPPRC):c.1184A>G (p.Lys395Arg) rs781185542 0.00001
NM_133259.4(LRPPRC):c.1236T>C (p.His412=) rs764634151 0.00001
NM_133259.4(LRPPRC):c.1421A>G (p.Gln474Arg) rs201339004 0.00001
NM_133259.4(LRPPRC):c.1582+20G>A rs373269119 0.00001
NM_133259.4(LRPPRC):c.1677+18T>A rs779816604 0.00001
NM_133259.4(LRPPRC):c.1846G>A (p.Val616Ile) rs1229301675 0.00001
NM_133259.4(LRPPRC):c.2120C>T (p.Ser707Phe) rs747145260 0.00001
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His) rs187274438 0.00001
NM_133259.4(LRPPRC):c.2388A>G (p.Ala796=) rs781484771 0.00001
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser) rs747400412 0.00001
NM_133259.4(LRPPRC):c.2563T>C (p.Leu855=) rs749500498 0.00001
NM_133259.4(LRPPRC):c.365A>G (p.His122Arg) rs767831585 0.00001
NM_133259.4(LRPPRC):c.3690G>A (p.Leu1230=) rs747755084 0.00001
NM_133259.4(LRPPRC):c.3837A>G (p.Ala1279=) rs1000290192 0.00001
NM_133259.4(LRPPRC):c.408A>G (p.Glu136=) rs769912947 0.00001
NM_133259.4(LRPPRC):c.4180T>G (p.Ser1394Ala) rs145232874 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly) rs765911841 0.00001
NM_133259.4(LRPPRC):c.814G>A (p.Ala272Thr) rs200061143 0.00001
NM_133259.4(LRPPRC):c.864+2T>C rs863224053 0.00001
NC_000002.12:g.43996027_43996029dup rs534231788
NM_133259.4(LRPPRC):c.1086C>A (p.Pro362=) rs150044060
NM_133259.4(LRPPRC):c.109G>A (p.Ala37Thr) rs763948159
NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del) rs863224061
NM_133259.4(LRPPRC):c.1155+60_1155+66del rs370805768
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) rs863224054
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1261+8A>G rs1572565987
NM_133259.4(LRPPRC):c.1301G>C (p.Gly434Ala)
NM_133259.4(LRPPRC):c.1370-235T>C rs72879125
NM_133259.4(LRPPRC):c.140C>G (p.Pro47Arg)
NM_133259.4(LRPPRC):c.1488+335G>A rs6706737
NM_133259.4(LRPPRC):c.1489-56T>G rs10190161
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.150-19del rs777754167
NM_133259.4(LRPPRC):c.1501C>G (p.Leu501Val)
NM_133259.4(LRPPRC):c.1583-17G>A rs1410002648
NM_133259.4(LRPPRC):c.1650-18C>A rs1553404839
NM_133259.4(LRPPRC):c.1650-299C>A rs140650696
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.1677+11C>T rs58811869
NM_133259.4(LRPPRC):c.1677+294C>A rs144340094
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.1915A>G (p.Ile639Val) rs863224050
NM_133259.4(LRPPRC):c.1920+1G>T rs863224055
NM_133259.4(LRPPRC):c.1921-124C>T rs116738214
NM_133259.4(LRPPRC):c.1966-12del rs763457460
NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val) rs863224056
NM_133259.4(LRPPRC):c.205C>G (p.Gln69Glu)
NM_133259.4(LRPPRC):c.2210+161_2210+164del rs10589598
NM_133259.4(LRPPRC):c.2280_2282delinsAAT (p.His761Ile)
NM_133259.4(LRPPRC):c.2297-8C>A
NM_133259.4(LRPPRC):c.2373C>T (p.His791=) rs1572950032
NM_133259.4(LRPPRC):c.2423T>G (p.Leu808Trp) rs863224057
NM_133259.4(LRPPRC):c.2504+17T>C rs1057523262
NM_133259.4(LRPPRC):c.2629+18A>G rs572783698
NM_133259.4(LRPPRC):c.2629+30dup rs143170527
NM_133259.4(LRPPRC):c.2629+38del rs143170527
NM_133259.4(LRPPRC):c.2651A>T (p.Glu884Val)
NM_133259.4(LRPPRC):c.2839C>A (p.Gln947Lys)
NM_133259.4(LRPPRC):c.2861G>A (p.Arg954Lys) rs863224060
NM_133259.4(LRPPRC):c.2896+16A>G rs117077213
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr) rs912716897
NM_133259.4(LRPPRC):c.3039+21C>A rs7568481
NM_133259.4(LRPPRC):c.3148+14G>A rs555356354
NM_133259.4(LRPPRC):c.3365-34A>G rs17031757
NM_133259.4(LRPPRC):c.346+243del rs150989251
NM_133259.4(LRPPRC):c.3531G>A (p.Met1177Ile) rs376046961
NM_133259.4(LRPPRC):c.3541A>G (p.Asn1181Asp)
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) rs762254417
NM_133259.4(LRPPRC):c.3570-188A>T rs114392725
NM_133259.4(LRPPRC):c.3809C>T (p.Ala1270Val) rs863224058
NM_133259.4(LRPPRC):c.3826-16_3826-14dup rs1553390388
NM_133259.4(LRPPRC):c.3828A>G (p.Arg1276=) rs796835901
NM_133259.4(LRPPRC):c.3900+193G>T rs116104003
NM_133259.4(LRPPRC):c.3952G>T (p.Glu1318Ter) rs1266345519
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133259.4(LRPPRC):c.3984T>C (p.Tyr1328=) rs1057521433
NM_133259.4(LRPPRC):c.3985+14_3985+18del rs781110277
NM_133259.4(LRPPRC):c.3985+188_3985+190del rs540854621
NM_133259.4(LRPPRC):c.4022A>G (p.Tyr1341Cys)
NM_133259.4(LRPPRC):c.4129-8C>T rs1553387459
NM_133259.4(LRPPRC):c.451G>C (p.Asp151His)
NM_133259.4(LRPPRC):c.592_603del
NM_133259.4(LRPPRC):c.613G>A (p.Ala205Thr)
NM_133259.4(LRPPRC):c.76C>T (p.Leu26Phe) rs1341115802
NM_133259.4(LRPPRC):c.79C>G (p.Leu27Val)
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His) rs946957597
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_133259.4(LRPPRC):c.889G>A (p.Glu297Lys)
NM_133259.4(LRPPRC):c.94G>C (p.Gly32Arg) rs863224051
NM_133259.4(LRPPRC):c.956A>G (p.Gln319Arg)
NM_133259.4(LRPPRC):c.999A>G (p.Arg333=)

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