ClinVar Miner

List of variants in gene LARS1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_020117.11(LARS1):c.1877+63T>C rs2962504 0.98717
NM_020117.11(LARS1):c.772-177G>A rs2962507 0.96747
NM_020117.11(LARS1):c.1066-243T>A rs2962505 0.96745
NM_020117.11(LARS1):c.1504-242T>C rs2939521 0.96539
NM_020117.11(LARS1):c.2213-307C>G rs2962500 0.96247
NM_020117.11(LARS1):c.125+62A>T rs2963907 0.76300
NM_020117.11(LARS1):c.708-226C>G rs2939536 0.73765
NM_020117.11(LARS1):c.2149-152G>A rs2963919 0.65668
NM_020117.11(LARS1):c.126-205A>G rs2962511 0.64688
NM_020117.11(LARS1):c.594+294C>T rs2962509 0.64667
NM_020117.11(LARS1):c.125+60A>T rs59335759 0.54784
NM_020117.11(LARS1):c.1231-69A>G rs17500483 0.31477
NM_020117.11(LARS1):c.125+124C>T rs4443471 0.23675
NM_020117.11(LARS1):c.2094C>T (p.Asp698=) rs17493851 0.22623
NM_020117.11(LARS1):c.708-306A>C rs62373789 0.22614
NM_020117.11(LARS1):c.495C>T (p.Gly165=) rs3763373 0.22605
NC_000005.10:g.146182788A>G rs17428647 0.22471
NM_020117.11(LARS1):c.3263G>A (p.Arg1088Lys) rs10988 0.22458
NM_020117.11(LARS1):c.3193-91T>C rs11167931 0.22449
NM_020117.11(LARS1):c.1230+169A>G rs34090359 0.22396
NM_020117.11(LARS1):c.1504-241G>A rs2400211 0.22297
NM_020117.11(LARS1):c.2149-119G>A rs12153109 0.22256
NM_020117.11(LARS1):c.-87C>T rs11540215 0.22254
NM_020117.11(LARS1):c.7-160G>C rs11949351 0.22252
NM_020117.11(LARS1):c.648A>C (p.Ser216=) rs11540214 0.22247
NM_020117.11(LARS1):c.771+46A>T rs13178516 0.22247
NM_020117.11(LARS1):c.2148+164G>A rs67598659 0.22237
NC_000005.10:g.146182719G>T rs13186701 0.22235
NM_020117.11(LARS1):c.1153+38A>T rs34342344 0.22235
NM_020117.11(LARS1):c.125+366T>C rs4413574 0.22235
NM_020117.11(LARS1):c.294+292G>T rs3828935 0.22235
NM_020117.11(LARS1):c.1747C>T (p.Leu583=) rs11540217 0.22234
NM_020117.11(LARS1):c.213+263T>C rs11952228 0.22234
NM_020117.11(LARS1):c.708-90A>T rs13182567 0.22234
NM_020117.11(LARS1):c.2881-140G>A rs1395277 0.22233
NM_020117.11(LARS1):c.772-209A>G rs17428570 0.22233
NC_000005.10:g.146183002G>A rs17428724 0.22232
NM_020117.11(LARS1):c.708-189A>G rs67986716 0.22231
NM_020117.11(LARS1):c.2091-124G>A rs11951553 0.22229
NM_020117.11(LARS1):c.2628+8C>T rs11953517 0.22221
NM_020117.11(LARS1):c.1231-137A>G rs17428465 0.22219
NM_020117.11(LARS1):c.1426-294T>C rs2292173 0.22218
NM_020117.11(LARS1):c.2775T>C (p.Thr925=) rs2895647 0.22218
NM_020117.11(LARS1):c.1065+324T>C rs13180113 0.22216
NM_020117.11(LARS1):c.2397-134T>C rs35424128 0.22215
NM_020117.11(LARS1):c.1231-86T>C rs17500504 0.22176
NM_020117.11(LARS1):c.2091-313T>C rs11955635 0.22164
NM_020117.11(LARS1):c.2674A>G (p.Asn892Asp) rs61732383 0.22162
NM_020117.11(LARS1):c.2673T>G (p.Val891=) rs61732382 0.22142
NM_020117.11(LARS1):c.2769+84A>G rs2895648 0.22113
NM_020117.11(LARS1):c.2769+70A>G rs2895649 0.22112
NM_020117.11(LARS1):c.2148+190G>C rs76304107 0.12068
NM_020117.11(LARS1):c.2880+334A>G rs17104264 0.09330
NM_020117.11(LARS1):c.595-326T>C rs66891285 0.09317
NM_020117.11(LARS1):c.594+39_594+52dup rs140904487 0.09245
NM_020117.11(LARS1):c.3193-35C>G rs17104250 0.09058
NM_020117.11(LARS1):c.2488-7T>G rs17104268 0.06292
NM_020117.11(LARS1):c.771+142G>A rs72822274 0.06254
NM_020117.11(LARS1):c.2396+304A>G rs72822208 0.06253
NM_020117.11(LARS1):c.2628+201C>T rs17104266 0.06252
NM_020117.11(LARS1):c.1230+61_1230+64dup rs150034157 0.06251
NM_020117.11(LARS1):c.295-11A>G rs72822293 0.06250
NM_020117.11(LARS1):c.2889C>T (p.Asn963=) rs11540216 0.06243
NM_020117.11(LARS1):c.1877+49T>G rs17104276 0.06176
NM_020117.11(LARS1):c.3326-210C>G rs116780433 0.05598
NM_020117.11(LARS1):c.125+58A>T rs1227525890 0.05364
NM_020117.11(LARS1):c.3193-328A>G rs74510329 0.03749
NM_020117.11(LARS1):c.2992-309del rs140480850 0.03489
NM_020117.11(LARS1):c.3326-194C>T rs113015845 0.03485
NM_020117.11(LARS1):c.354A>G (p.Pro118=) rs73317824 0.03174
NM_020117.11(LARS1):c.1065+58A>G rs58508858 0.03171
NM_020117.11(LARS1):c.3097-179C>T rs73315733 0.03170
NM_020117.11(LARS1):c.7-301G>A rs56013882 0.03163
NM_020117.11(LARS1):c.1425+194A>G rs56791671 0.03065
NM_020117.11(LARS1):c.2629-10T>C rs181728560 0.02386
NM_020117.11(LARS1):c.432+254G>A rs184592133 0.02378
NM_020117.11(LARS1):c.125+132C>T rs188961770 0.02364
NM_020117.11(LARS1):c.2487+219G>A rs114406964 0.02262
NM_020117.11(LARS1):c.3325+157G>C rs73315731 0.01660
NM_020117.11(LARS1):c.2091-90A>T rs73315769 0.01650
NM_020117.11(LARS1):c.1692C>T (p.Thr564=) rs114307562 0.01194
NM_020117.11(LARS1):c.840-31T>C rs75701034 0.01192
NM_020117.11(LARS1):c.1284+290A>G rs140643050 0.01167
NM_020117.11(LARS1):c.1066-164A>G rs73315788 0.01111
NM_020117.11(LARS1):c.2148+205C>T rs142828262 0.01105
NM_020117.11(LARS1):c.2817T>C (p.Tyr939=) rs141727672 0.01041
NM_020117.11(LARS1):c.2148+298A>G rs148699941 0.00980
NM_020117.11(LARS1):c.2487+174G>A rs115245364 0.00832
NM_020117.11(LARS1):c.1066-262A>G rs77469247 0.00707
NM_020117.11(LARS1):c.2212+13T>C rs114726414 0.00678
NM_020117.11(LARS1):c.771+265T>C rs149314460 0.00658
NM_020117.11(LARS1):c.2991+76C>T rs146598416 0.00573
NM_020117.11(LARS1):c.*147T>G rs148479269 0.00570
NM_020117.11(LARS1):c.1284+91T>C rs190538173 0.00516
NM_020117.11(LARS1):c.3192+217T>G rs147044022 0.00483
NM_020117.11(LARS1):c.3192+279A>G rs115323323 0.00408
NM_020117.11(LARS1):c.2666G>A (p.Gly889Asp) rs150148403 0.00403
NM_020117.11(LARS1):c.2578G>A (p.Ala860Thr) rs112912805 0.00377
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500 0.00374
NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys) rs34823161 0.00369
NM_020117.11(LARS1):c.2091-273C>T rs140452772 0.00361
NM_020117.11(LARS1):c.125+110C>T rs372545309 0.00342
NM_020117.11(LARS1):c.125+114A>T rs548368692 0.00342
NM_020117.11(LARS1):c.771+27A>G rs72822275 0.00293
NM_020117.11(LARS1):c.2880+6G>T rs148025694 0.00290
NM_020117.11(LARS1):c.294+8C>T rs188699530 0.00270
NM_020117.11(LARS1):c.2090+144A>G rs184701837 0.00266
NM_020117.11(LARS1):c.2487+44G>A rs142402814 0.00263
NM_020117.11(LARS1):c.839+21G>T rs114841511 0.00231
NM_020117.11(LARS1):c.595-19T>C rs144307734 0.00230
NM_020117.11(LARS1):c.126-9G>T rs181291967 0.00225
NM_020117.11(LARS1):c.3193-18T>G rs144388953 0.00220
NM_020117.11(LARS1):c.433-12C>T rs76839811 0.00176
NM_020117.11(LARS1):c.1504-4T>G rs59700447 0.00131
NM_020117.11(LARS1):c.3336A>G (p.Lys1112=) rs141790396 0.00121
NM_020117.11(LARS1):c.1656-8T>C rs373546480 0.00115
NM_020117.11(LARS1):c.2769+14G>T rs531785197 0.00092
NM_020117.11(LARS1):c.2628+27G>A rs143025329 0.00081
NM_020117.11(LARS1):c.1231-14A>G rs199763272 0.00063
NM_020117.11(LARS1):c.1284+9A>G rs372974596 0.00061
NM_020117.11(LARS1):c.1285-25C>T rs115637173 0.00052
NM_020117.11(LARS1):c.294+38G>C rs3812244 0.00052
NM_020117.11(LARS1):c.1500C>T (p.Asp500=) rs139648263 0.00051
NM_020117.11(LARS1):c.294+9G>A rs375149812 0.00050
NM_020117.11(LARS1):c.3097-11C>T rs201352065 0.00042
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp) rs151245897 0.00041
NM_020117.11(LARS1):c.1589+18A>G rs374629631 0.00028
NM_020117.11(LARS1):c.1285-6C>T rs141942986 0.00017
NM_020117.11(LARS1):c.1182C>T (p.Ser394=) rs367858308 0.00016
NM_020117.11(LARS1):c.1248T>C (p.Tyr416=) rs147682879 0.00012
NM_020117.11(LARS1):c.2539C>G (p.Leu847Val) rs187036851 0.00012
NM_020117.11(LARS1):c.3409G>A (p.Glu1137Lys) rs201386463 0.00011
NM_020117.11(LARS1):c.433-11A>G rs367618230 0.00011
NM_020117.11(LARS1):c.1648C>T (p.Leu550=) rs146199705 0.00010
NM_020117.11(LARS1):c.1860G>A (p.Glu620=) rs146906828 0.00010
NM_020117.11(LARS1):c.3090G>A (p.Ser1030=) rs199688556 0.00010
NM_020117.11(LARS1):c.3126C>T (p.Ser1042=) rs748343914 0.00010
NM_020117.11(LARS1):c.1655+6A>G rs373591577 0.00009
NM_020117.11(LARS1):c.2149-16T>C rs371035009 0.00009
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_020117.11(LARS1):c.3097-10G>A rs534430761 0.00009
NM_020117.11(LARS1):c.954G>A (p.Thr318=) rs200913317 0.00009
NM_020117.11(LARS1):c.2770-6G>A rs373663096 0.00006
NM_020117.11(LARS1):c.2816A>G (p.Tyr939Cys) rs757195926 0.00006
NM_020117.11(LARS1):c.3205G>A (p.Val1069Ile) rs777624825 0.00006
NM_020117.11(LARS1):c.3326-3T>C rs749698974 0.00006
NM_020117.11(LARS1):c.798A>G (p.Leu266=) rs149426195 0.00006
NM_020117.11(LARS1):c.2769+7T>A rs201994812 0.00005
NM_020117.11(LARS1):c.1731T>C (p.Tyr577=) rs763520931 0.00004
NM_020117.11(LARS1):c.2014G>A (p.Val672Ile) rs368776216 0.00004
NM_020117.11(LARS1):c.2915T>C (p.Ile972Thr) rs377245038 0.00004
NM_020117.11(LARS1):c.3504C>T (p.Gly1168=) rs201583773 0.00004
NM_020117.11(LARS1):c.1183G>A (p.Asp395Asn) rs762386770 0.00003
NM_020117.11(LARS1):c.1545G>A (p.Met515Ile) rs863224045 0.00003
NM_020117.11(LARS1):c.1738+15A>G rs370031023 0.00003
NM_020117.11(LARS1):c.2396+18A>G rs1186530205 0.00003
NM_020117.11(LARS1):c.2515G>A (p.Ala839Thr) rs751652832 0.00003
NM_020117.11(LARS1):c.1188C>T (p.Ser396=) rs1299324954 0.00001
NM_020117.11(LARS1):c.1284G>A (p.Pro428=) rs778961690 0.00001
NM_020117.11(LARS1):c.1285-11G>A rs769361368 0.00001
NM_020117.11(LARS1):c.219T>C (p.Ala73=) rs758912469 0.00001
NM_020117.11(LARS1):c.2208A>G (p.Ala736=) rs761993281 0.00001
NM_020117.11(LARS1):c.2629-13C>G rs199826165 0.00001
NM_020117.11(LARS1):c.2885A>G (p.Asn962Ser) rs762913390 0.00001
NM_020117.11(LARS1):c.2889del (p.Asn963fs) rs1473633538 0.00001
NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val) rs745902477 0.00001
NM_020117.11(LARS1):c.725C>T (p.Pro242Leu) rs749542896 0.00001
NM_020117.11(LARS1):c.801C>A (p.Leu267=) rs1057522771 0.00001
NM_020117.11(LARS1):c.840-5dup rs768823964 0.00001
NC_000005.10:g.146182863C>A rs73317848
NM_020117.11(LARS1):c.1065+12A>G rs1057522745
NM_020117.11(LARS1):c.1065+149A>G rs151081054
NM_020117.11(LARS1):c.1110G>T (p.Lys370Asn)
NM_020117.11(LARS1):c.1230+157del rs200902839
NM_020117.11(LARS1):c.1230+172dup rs57378167
NM_020117.11(LARS1):c.125+63_125+64dup rs10650026
NM_020117.11(LARS1):c.125+63_125+65dup rs10650026
NM_020117.11(LARS1):c.125+63_125+66dup rs10650026
NM_020117.11(LARS1):c.125+63_125+68dup rs10650026
NM_020117.11(LARS1):c.125+63dup rs10650026
NM_020117.11(LARS1):c.126-17A>G rs748372946
NM_020117.11(LARS1):c.1287G>C (p.Val429=) rs1033362535
NM_020117.11(LARS1):c.1306G>A (p.Gly436Ser) rs1057523128
NM_020117.11(LARS1):c.137_141del (p.Tyr46fs) rs863224047
NM_020117.11(LARS1):c.1426-170_1426-167del rs139601673
NM_020117.11(LARS1):c.1504-129C>G rs13161075
NM_020117.11(LARS1):c.1504-275del rs975154608
NM_020117.11(LARS1):c.1726A>G (p.Thr576Ala)
NM_020117.11(LARS1):c.1739-223A>C rs149561471
NM_020117.11(LARS1):c.1878-41TA[10] rs3840516
NM_020117.11(LARS1):c.1878-41TA[8] rs3840516
NM_020117.11(LARS1):c.1899A>C (p.Glu633Asp)
NM_020117.11(LARS1):c.1922A>C (p.Lys641Thr)
NM_020117.11(LARS1):c.1923G>A (p.Lys641=) rs781026136
NM_020117.11(LARS1):c.1953A>G (p.Ala651=) rs756618995
NM_020117.11(LARS1):c.1961A>C (p.Lys654Thr)
NM_020117.11(LARS1):c.214-17del rs142668585
NM_020117.11(LARS1):c.2148+98G>A rs562191068
NM_020117.11(LARS1):c.2149-131C>A rs7734517
NM_020117.11(LARS1):c.2295C>T (p.Leu765=) rs1554127663
NM_020117.11(LARS1):c.2391dup (p.Ala798fs)
NM_020117.11(LARS1):c.2396+71C>G rs35869904
NM_020117.11(LARS1):c.2396+81_2396+82del rs202210415
NM_020117.11(LARS1):c.2396+93del rs11321164
NM_020117.11(LARS1):c.2397-190C>T rs73315752
NM_020117.11(LARS1):c.2487+5G>A rs863224046
NM_020117.11(LARS1):c.2628+304_2628+313del rs72226576
NM_020117.11(LARS1):c.2629-13_2629-8del rs67107752
NM_020117.11(LARS1):c.2769+15dup rs747958835
NM_020117.11(LARS1):c.2880+173_2880+187del rs11467105
NM_020117.11(LARS1):c.2881-39dup rs200980777
NM_020117.11(LARS1):c.294+58C>G rs73317828
NM_020117.11(LARS1):c.3061A>C (p.Met1021Leu)
NM_020117.11(LARS1):c.3064G>C (p.Glu1022Gln) rs1057523129
NM_020117.11(LARS1):c.3097-196C>G rs73315734
NM_020117.11(LARS1):c.3116A>G (p.Lys1039Arg)
NM_020117.11(LARS1):c.3192+204del rs200637592
NM_020117.11(LARS1):c.3314G>A (p.Arg1105Gln)
NM_020117.11(LARS1):c.3325+82C>G rs112894446
NM_020117.11(LARS1):c.594+211TAT[2] rs140492299
NM_020117.11(LARS1):c.595-168_595-165dup rs67449817
NM_020117.11(LARS1):c.595-170G>T rs182801361
NM_020117.11(LARS1):c.604C>T (p.Arg202Cys) rs764070641
NM_020117.11(LARS1):c.707+315_707+317del rs202235327
NM_020117.11(LARS1):c.745A>G (p.Met249Val)
NM_020117.11(LARS1):c.748G>A (p.Asp250Asn)

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