ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Invitae

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 307
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HGVS dbSNP
NC_000001.11:g.(?_6467553)_(6477668_?)del
NC_000001.11:g.(?_6474003)_(6477668_?)del
NC_000004.12:g.(?_153204511)_(153276150_?)del
NC_000005.10:g.(?_110743720)_(110743797_?)del
NC_000005.10:g.(?_131159273)_(131165358_?)del
NC_000005.10:g.(?_131159427)_(131165225_?)del
NC_000005.10:g.(?_149040594)_(149040687_?)del
NC_000005.10:g.(?_149047842)_(149048009_?)del
NC_000005.10:g.(?_149062971)_(149063174_?)del
NC_000006.12:g.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
NC_000007.14:g.(?_76303789)_(76304183_?)del
NC_000007.14:g.(?_76303802)_(76304173_?)del
NC_000009.12:g.(?_127501000)_(127501153_?)del
NC_000011.10:g.(?_10193902)_(10193987_?)del
NC_000012.12:g.(?_32576256)_(32640543_?)del
NC_000012.12:g.(?_32576352)_(32619876_?)del
NC_000019.10:g.(?_40403686)_(40403882_?)del
NC_000019.10:g.(?_40403696)_(40403872_?)del
NG_051334.1:g.(?_5985)_(28647_?)del
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1159_1162AGCC[3] (p.Val390fs)
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142386.3(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del rs1588132672
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001304481.1(FGD4):c.2118_2119CA[1] (p.Thr707fs) rs1555223595
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs) rs751035912
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.180dup (p.Ala61fs) rs1064796370
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) rs28939681
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.510del (p.Lys171fs)
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala)
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter) rs556292818
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.2(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714
NM_002180.3(IGHMBP2):c.133del (p.Val45fs) rs1594415353
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
NM_002180.3(IGHMBP2):c.2611+1G>A
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)
NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser) rs121909093
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) rs757417962
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.6(FIG4):c.1750+1del
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
NM_014845.6(FIG4):c.2429_2430TC[1] (p.Ser811fs)
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter) rs746386202
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs) rs1590974596
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs) rs1590997023
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs)
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)
NM_016156.6(MTMR2):c.874del (p.Ser292fs)
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)
NM_018972.4(GDAP1):c.310+1G>A
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.618dup (p.Lys207fs)
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003
NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) rs759212541
NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694
NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs) rs1569875704
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs)
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*1379C>T rs773009397
NM_020956.2(PRX):c.*1595C>T rs574861276
NM_020956.2(PRX):c.*2069C>T rs1210729449
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2894C>T rs756689732
NM_020956.2(PRX):c.*3058dup rs1568704829
NM_020956.2(PRX):c.*3219_*3220insT rs1301129751
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.3(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663
NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717
NM_024577.3(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer) rs1580901363
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
NM_024577.4(SH3TC2):c.805+2T>C
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.192_193dup (p.Phe65fs)
NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.2536+1G>A rs1060500001
NM_030962.3(SBF2):c.2668C>T (p.Arg890Ter)
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter) rs774667470
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_138361.5(LRSAM1):c.109del (p.Ser37fs)
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_138361.5(LRSAM1):c.1333del (p.Gln445fs)
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs) rs775965001
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2093_2104del rs1554763017
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs)
NM_138773.4(SLC25A46):c.462+1G>A
NM_138773.4(SLC25A46):c.47del (p.Gly16fs) rs1580849841
NM_139241.3(FGD4):c.1043del (p.Pro348fs) rs1592387932
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.613C>T (p.Gln205Ter)
NM_139241.3(FGD4):c.640del (p.Leu214fs)
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
NM_181882.3(PRX):c.458del (p.Pro153fs) rs1599656851
NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507
NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) rs1555057316
NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) rs1358449243

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