ClinVar Miner

List of variants in gene LRPPRC reported by GeneDx

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Gene type:
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Total variants: 153
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HGVS dbSNP
NC_000002.12:g.43996219C>G rs56763294
NM_133259.3(LRPPRC):c.592_603delGTGACATACCAG (p.Val198_Gln201del)
NM_133259.4(LRPPRC):c.-11A>G rs188424940
NM_133259.4(LRPPRC):c.-33G>A rs1162042995
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.109G>T (p.Ala37Ser) rs763948159
NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del) rs863224061
NM_133259.4(LRPPRC):c.1155+30A>G rs7593842
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) rs863224054
NM_133259.4(LRPPRC):c.1184A>G (p.Lys395Arg) rs781185542
NM_133259.4(LRPPRC):c.1209C>T (p.His403=) rs375528620
NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr) rs148016991
NM_133259.4(LRPPRC):c.1236T>C (p.His412=) rs764634151
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser) rs373908553
NM_133259.4(LRPPRC):c.1261+8A>G rs1572565987
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922
NM_133259.4(LRPPRC):c.1369+20C>T rs371260395
NM_133259.4(LRPPRC):c.1421A>G (p.Gln474Arg) rs201339004
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.4(LRPPRC):c.1488+16G>A rs200299073
NM_133259.4(LRPPRC):c.1488+335G>A rs6706737
NM_133259.4(LRPPRC):c.1488+40A>T rs201360053
NM_133259.4(LRPPRC):c.149+19T>C rs531535255
NM_133259.4(LRPPRC):c.149+20C>G rs540850536
NM_133259.4(LRPPRC):c.149+276T>C rs12712903
NM_133259.4(LRPPRC):c.149+8C>T rs548205703
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.150-19del rs777754167
NM_133259.4(LRPPRC):c.150-233G>T rs4276071
NM_133259.4(LRPPRC):c.151G>C (p.Gly51Arg) rs199606252
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730
NM_133259.4(LRPPRC):c.1582+20G>A rs373269119
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276
NM_133259.4(LRPPRC):c.1583-17G>A rs1410002648
NM_133259.4(LRPPRC):c.1649+11C>T rs200115839
NM_133259.4(LRPPRC):c.1649_1649+1delinsTTT rs863224059
NM_133259.4(LRPPRC):c.1650-18C>A rs1553404839
NM_133259.4(LRPPRC):c.1650-209A>G rs4245798
NM_133259.4(LRPPRC):c.1650-295A>G rs4953040
NM_133259.4(LRPPRC):c.1677+11C>T rs58811869
NM_133259.4(LRPPRC):c.1677+152G>A rs59338949
NM_133259.4(LRPPRC):c.1677+18T>A rs779816604
NM_133259.4(LRPPRC):c.1677+258A>G rs4594494
NM_133259.4(LRPPRC):c.1677+294C>A rs144340094
NM_133259.4(LRPPRC):c.1736-14G>A rs116117684
NM_133259.4(LRPPRC):c.1842+10C>T rs373649496
NM_133259.4(LRPPRC):c.1843-28T>G rs72877186
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858
NM_133259.4(LRPPRC):c.1915A>G (p.Ile639Val) rs863224050
NM_133259.4(LRPPRC):c.1920+1G>T rs863224055
NM_133259.4(LRPPRC):c.1921-54A>T rs35768060
NM_133259.4(LRPPRC):c.1966-12del rs763457460
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712
NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val) rs863224056
NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu) rs372341254
NM_133259.4(LRPPRC):c.2079+10G>A rs545497810
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415
NM_133259.4(LRPPRC):c.2120C>T (p.Ser707Phe) rs747145260
NM_133259.4(LRPPRC):c.2210+10C>T rs200747013
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694
NM_133259.4(LRPPRC):c.2211-80A>G rs13022151
NM_133259.4(LRPPRC):c.2271A>G (p.Val757=) rs145963884
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347
NM_133259.4(LRPPRC):c.2364C>T (p.Ser788=) rs143672315
NM_133259.4(LRPPRC):c.2373C>T (p.His791=) rs1572950032
NM_133259.4(LRPPRC):c.2388A>G (p.Ala796=) rs781484771
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser) rs747400412
NM_133259.4(LRPPRC):c.2423T>G (p.Leu808Trp) rs863224057
NM_133259.4(LRPPRC):c.242A>G (p.Asn81Ser) rs748138102
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634
NM_133259.4(LRPPRC):c.2487C>T (p.Val829=) rs527287371
NM_133259.4(LRPPRC):c.2504+128G>C rs75856196
NM_133259.4(LRPPRC):c.2504+17T>C rs1057523262
NM_133259.4(LRPPRC):c.2504+245T>A rs4263155
NM_133259.4(LRPPRC):c.2505-149T>C rs11899538
NM_133259.4(LRPPRC):c.2505-303A>G rs17424646
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.4(LRPPRC):c.2563T>C (p.Leu855=) rs749500498
NM_133259.4(LRPPRC):c.2629+12T>G rs367880065
NM_133259.4(LRPPRC):c.2629+18A>G rs572783698
NM_133259.4(LRPPRC):c.262A>C (p.Met88Leu) rs863224049
NM_133259.4(LRPPRC):c.2737-230C>G rs62138282
NM_133259.4(LRPPRC):c.2806-233A>T rs78846015
NM_133259.4(LRPPRC):c.2861G>A (p.Arg954Lys) rs863224060
NM_133259.4(LRPPRC):c.2896+16A>G rs117077213
NM_133259.4(LRPPRC):c.2897-262G>A rs4953036
NM_133259.4(LRPPRC):c.2897-300T>G rs62138273
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677
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.3030C>T (p.Asp1010=) rs147000685
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) rs113374262
NM_133259.4(LRPPRC):c.3078G>A (p.Ser1026=) rs760063530
NM_133259.4(LRPPRC):c.3148+14G>A rs555356354
NM_133259.4(LRPPRC):c.3149-289C>T rs4952691
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631
NM_133259.4(LRPPRC):c.3365-16T>C rs377145600
NM_133259.4(LRPPRC):c.3365-249G>A rs4953032
NM_133259.4(LRPPRC):c.347-19A>G rs78083883
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) rs762254417
NM_133259.4(LRPPRC):c.3570-188A>T rs114392725
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761
NM_133259.4(LRPPRC):c.3585C>T (p.Ala1195=) rs139109482
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133259.4(LRPPRC):c.365A>G (p.His122Arg) rs767831585
NM_133259.4(LRPPRC):c.3809C>T (p.Ala1270Val) rs863224058
NM_133259.4(LRPPRC):c.3825+15C>T rs374967275
NM_133259.4(LRPPRC):c.3825+299A>G rs115280310
NM_133259.4(LRPPRC):c.3826-16_3826-14dup rs1553390388
NM_133259.4(LRPPRC):c.3826-208A>G rs10495910
NM_133259.4(LRPPRC):c.3837A>G (p.Ala1279=) rs1000290192
NM_133259.4(LRPPRC):c.3900+193G>T rs116104003
NM_133259.4(LRPPRC):c.3901-14A>G rs764713386
NM_133259.4(LRPPRC):c.3901-160A>G rs17496251
NM_133259.4(LRPPRC):c.3901-175T>C rs62138479
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.3986-31T>G rs2955281
NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu) rs146630100
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) rs148828179
NM_133259.4(LRPPRC):c.408A>G (p.Glu136=) rs769912947
NM_133259.4(LRPPRC):c.4129-305G>A rs10445885
NM_133259.4(LRPPRC):c.4129-8C>T rs1553387459
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971
NM_133259.4(LRPPRC):c.469+166T>G rs10170954
NM_133259.4(LRPPRC):c.470-132C>G rs6721144
NM_133259.4(LRPPRC):c.470-13A>G rs201627660
NM_133259.4(LRPPRC):c.470-20A>G rs201123932
NM_133259.4(LRPPRC):c.470-302A>G rs6736282
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) rs570349090
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_133259.4(LRPPRC):c.651-15G>A rs375831894
NM_133259.4(LRPPRC):c.651-211C>T rs11691515
NM_133259.4(LRPPRC):c.66C>T (p.Leu22=) rs769158010
NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly) rs765911841
NM_133259.4(LRPPRC):c.723G>A (p.Gly241=) rs371182328
NM_133259.4(LRPPRC):c.738-70T>C rs17031786
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.814G>A (p.Ala272Thr) rs200061143
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_133259.4(LRPPRC):c.864+2T>C rs863224053
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250
NM_133259.4(LRPPRC):c.94G>C (p.Gly32Arg) rs863224051

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