ClinVar Miner

List of variants in gene LRPPRC reported as pathogenic for not provided

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) rs774934005 0.00001
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) rs758615834 0.00001
NM_133259.4(LRPPRC):c.244C>T (p.Gln82Ter) rs754855090 0.00001
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) rs1453934366 0.00001
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter) rs1166980943 0.00001
NM_133259.4(LRPPRC):c.864+2T>C rs863224053 0.00001
NC_000002.11:g.(?_44115739)_(44223086_?)del
NC_000002.11:g.(?_44152186)_(44153120_?)del
NC_000002.11:g.(?_44161309)_(44162037_?)del
NC_000002.11:g.(?_44184514)_(44187783_?)del
NC_000002.11:g.(?_44184514)_(44190855_?)del
NC_000002.11:g.(?_44190707)_(44204435_?)del
NC_000002.11:g.(?_44200726)_(44203388_?)del
NC_000002.11:g.(?_44200736)_(44209583_?)del
NC_000002.11:g.(?_44200736)_(44223096_?)del
NC_000002.11:g.(?_44209367)_(44223096_?)del
NM_133259.4(LRPPRC):c.1051G>T (p.Glu351Ter) rs761470523
NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs) rs2103713116
NM_133259.4(LRPPRC):c.1142_1143del (p.Val381fs)
NM_133259.4(LRPPRC):c.1179_1183del (p.Tyr393_Lys395delinsTer)
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs) rs1553410876
NM_133259.4(LRPPRC):c.123del (p.Ala42fs)
NM_133259.4(LRPPRC):c.1267del (p.Ala423fs) rs1673920358
NM_133259.4(LRPPRC):c.1328G>A (p.Trp443Ter)
NM_133259.4(LRPPRC):c.1336_1343del (p.Leu446fs)
NM_133259.4(LRPPRC):c.1361del (p.Asn454fs) rs2103710225
NM_133259.4(LRPPRC):c.1431T>A (p.Tyr477Ter)
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter) rs746627889
NM_133259.4(LRPPRC):c.1431_1432del (p.Thr478fs) rs2103672990
NM_133259.4(LRPPRC):c.1474C>T (p.Arg492Ter)
NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs)
NM_133259.4(LRPPRC):c.1659_1663dup (p.Asn555delinsIleTer)
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) rs752914914
NM_133259.4(LRPPRC):c.1891G>T (p.Glu631Ter)
NM_133259.4(LRPPRC):c.1914_1917del (p.Ile639fs) rs1672759652
NM_133259.4(LRPPRC):c.1920+1G>T rs863224055
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
NM_133259.4(LRPPRC):c.2010_2011del (p.Leu671fs)
NM_133259.4(LRPPRC):c.2046_2047insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGATGTCCTA (p.Lys683fs)
NM_133259.4(LRPPRC):c.2050C>T (p.Gln684Ter)
NM_133259.4(LRPPRC):c.2058_2059del (p.Leu687fs) rs2105084937
NM_133259.4(LRPPRC):c.2072C>G (p.Ser691Ter)
NM_133259.4(LRPPRC):c.2081del (p.Asn694fs)
NM_133259.4(LRPPRC):c.2084del (p.Met695fs)
NM_133259.4(LRPPRC):c.2110A>T (p.Lys704Ter)
NM_133259.4(LRPPRC):c.2166T>A (p.Cys722Ter) rs2105082548
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter) rs1022152551
NM_133259.4(LRPPRC):c.2232_2247del (p.Val745fs)
NM_133259.4(LRPPRC):c.2247dup (p.Lys750fs) rs2105080891
NM_133259.4(LRPPRC):c.231del (p.Lys78fs)
NM_133259.4(LRPPRC):c.2325_2326delinsGT (p.Glu776Ter) rs2105077791
NM_133259.4(LRPPRC):c.2369dup (p.His791fs) rs2105077651
NM_133259.4(LRPPRC):c.2395A>T (p.Arg799Ter) rs1394324745
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs) rs2105077465
NM_133259.4(LRPPRC):c.2464_2465del (p.Thr822fs)
NM_133259.4(LRPPRC):c.2555_2559del (p.Tyr852fs)
NM_133259.4(LRPPRC):c.255G>A (p.Trp85Ter) rs2103745422
NM_133259.4(LRPPRC):c.277_278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCGACCCCAGCCCGCGGCGCCTTCGAGCCTTCTCTTGACGTTGTTTTCAAATAATCATAGTTGCCAGGAAAGAAGCCACTACCCGAGACTAGATCTTT (p.Ser93delinsPhePhePhePhePhePhePheXaaXaaXaaXaaThrAspProSerProArgArgLeuArgAlaPheSerTer) rs2103745283
NM_133259.4(LRPPRC):c.2830G>T (p.Glu944Ter) rs1458580158
NM_133259.4(LRPPRC):c.2839_2840dup (p.Gln947fs)
NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter) rs760186575
NM_133259.4(LRPPRC):c.2877C>A (p.Tyr959Ter)
NM_133259.4(LRPPRC):c.2912_2913insAT (p.Trp971Ter)
NM_133259.4(LRPPRC):c.2944C>T (p.Gln982Ter)
NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs)
NM_133259.4(LRPPRC):c.2995del (p.Ile999fs)
NM_133259.4(LRPPRC):c.3022_3023del (p.Pro1008fs) rs2105026015
NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter)
NM_133259.4(LRPPRC):c.305del (p.Lys102fs)
NM_133259.4(LRPPRC):c.30G>A (p.Trp10Ter)
NM_133259.4(LRPPRC):c.3117_3118del (p.Leu1040fs)
NM_133259.4(LRPPRC):c.3147del (p.Ala1051fs)
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.3181C>T (p.Gln1061Ter)
NM_133259.4(LRPPRC):c.3253C>T (p.Gln1085Ter)
NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)
NM_133259.4(LRPPRC):c.3286del (p.His1096fs) rs797044605
NM_133259.4(LRPPRC):c.3310del (p.Asp1104fs)
NM_133259.4(LRPPRC):c.3321del (p.Asn1107fs)
NM_133259.4(LRPPRC):c.3339del (p.Gln1114fs)
NM_133259.4(LRPPRC):c.3340C>T (p.Gln1114Ter)
NM_133259.4(LRPPRC):c.334dup (p.Thr112fs) rs1674342263
NM_133259.4(LRPPRC):c.3397C>T (p.Gln1133Ter) rs1670884795
NM_133259.4(LRPPRC):c.3524C>G (p.Ser1175Ter) rs1313891160
NM_133259.4(LRPPRC):c.3597del (p.Asn1199fs) rs2104990067
NM_133259.4(LRPPRC):c.3626_3627del (p.Lys1209fs) rs2104989966
NM_133259.4(LRPPRC):c.3643_3644insG (p.Tyr1215Ter)
NM_133259.4(LRPPRC):c.3663dup (p.Phe1222fs)
NM_133259.4(LRPPRC):c.3682G>T (p.Glu1228Ter) rs2104989806
NM_133259.4(LRPPRC):c.372_375del (p.Leu124fs)
NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs)
NM_133259.4(LRPPRC):c.3758del (p.Pro1253fs) rs2104989326
NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs) rs761052211
NM_133259.4(LRPPRC):c.3799del (p.Val1267fs) rs1572894174
NM_133259.4(LRPPRC):c.37del (p.Arg13fs)
NM_133259.4(LRPPRC):c.3844G>T (p.Glu1282Ter)
NM_133259.4(LRPPRC):c.3900+1G>C rs863225443
NM_133259.4(LRPPRC):c.3900+1G>T rs863225443
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133259.4(LRPPRC):c.3989C>G (p.Ser1330Ter)
NM_133259.4(LRPPRC):c.4011dup (p.Lys1338Ter) rs1670422432
NM_133259.4(LRPPRC):c.4050dup (p.Leu1351fs) rs2104970514
NM_133259.4(LRPPRC):c.4077C>A (p.Tyr1359Ter)
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179
NM_133259.4(LRPPRC):c.46dup (p.Ala16fs)
NM_133259.4(LRPPRC):c.486_489del (p.Ser163fs)
NM_133259.4(LRPPRC):c.551del (p.Phe184fs) rs2103725910
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) rs989113962
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) rs1553411748
NM_133259.4(LRPPRC):c.621T>A (p.Tyr207Ter)
NM_133259.4(LRPPRC):c.785del (p.Gly262fs)
NM_133259.4(LRPPRC):c.810C>G (p.Tyr270Ter)
NM_133259.4(LRPPRC):c.960T>A (p.Tyr320Ter) rs2103715123
NM_133259.4(LRPPRC):c.994A>T (p.Arg332Ter)

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