ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 305
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) rs144183238 0.00005
NM_001370298.3(FGD4):c.1402del (p.Gln468fs) rs1393673267 0.00004
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 0.00004
NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs) rs1064793771 0.00004
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=) rs776221160 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu) rs763949764 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_181882.3(PRX):c.589G>T (p.Glu197Ter) rs753857146 0.00003
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter) rs773009397 0.00002
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter) rs756689732 0.00002
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter) rs751404531 0.00001
NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter) rs899737461 0.00001
NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter) rs778377449 0.00001
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter) rs1048918488 0.00001
NM_006096.4(NDRG1):c.205+1G>A rs1060503092 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631 0.00001
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508 0.00001
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter) rs776090013 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_014845.6(FIG4):c.1A>C (p.Met1Leu) rs1490935299 0.00001
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter) rs774799167 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter) rs760575768 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548 0.00001
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402 0.00001
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter) rs751677491 0.00001
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs) rs1177373744 0.00001
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter) rs1864438088 0.00001
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181 0.00001
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665 0.00001
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter) rs757701609 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717 0.00001
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter) rs1248359114 0.00001
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter) rs1754425732 0.00001
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter) rs377509077 0.00001
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter) rs1032796987 0.00001
NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter) rs1433023728 0.00001
NM_030962.4(SBF2):c.20_21del (p.Tyr7fs) rs1270869520 0.00001
NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter) rs1413469900 0.00001
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter) rs774667470 0.00001
NM_030962.4(SBF2):c.444del (p.Asn149fs) rs1295003959 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter) rs574861276 0.00001
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter) rs1210729449 0.00001
NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs) rs1301129751 0.00001
NM_181882.3(PRX):c.3099_3100del (p.Glu1034fs) rs1474525486 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NC_000005.10:g.(?_149040594)_(149040687_?)del
NC_000005.10:g.(?_149047842)_(149048009_?)del
NC_000005.10:g.(?_149062971)_(149063174_?)del
NC_000005.9:g.(?_148360713)_(148443737_?)del
NC_000005.9:g.(?_148420147)_(148420260_?)del
NC_000005.9:g.(?_148426859)_(148427552_?)del
NC_000006.11:g.(?_107019871)_(110266416_?)del
NC_000006.11:g.(?_110012639)_(110064995_?)del
NC_000006.11:g.(?_110048292)_(110053276_?)del
NC_000006.11:g.(?_110048292)_(110098283_?)del
NC_000006.12:g.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
NC_000008.10:g.(?_134107268)_(134296554_?)del
NC_000008.10:g.(?_134260948)_(134262796_?)del
NC_000008.10:g.(?_134292465)_(134296564_?)del
NC_000011.10:g.(?_10193902)_(10193987_?)del
NC_000011.9:g.(?_10215443)_(10215540_?)del
NC_000011.9:g.(?_9809161)_(9812250_?)del
NC_000011.9:g.(?_9809171)_(9812240_?)del
NC_000011.9:g.(?_9864152)_(9871785_?)del
NC_000011.9:g.(?_9989878)_(9990102_?)del
NC_000012.11:g.(?_32729292)_(32793467_?)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
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter) rs201676628
NM_001370298.3(FGD4):c.1051del (p.Leu351fs) rs1948089932
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter) rs118203972
NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter) rs1948408994
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.1454del (p.Pro485fs) rs1592387932
NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter) rs2136932206
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs) rs1401878479
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs) rs1555223595
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) rs751035912
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) rs751035912
NM_001370298.3(FGD4):c.2444dup (p.Ala816fs) rs2137076976
NM_001370298.3(FGD4):c.2452del (p.Gln818fs) rs1060501904
NM_001370298.3(FGD4):c.2452dup (p.Gln818fs)
NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs) rs1951100155
NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
NM_001370298.3(FGD4):c.616del (p.Gln206fs) rs2136432373
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)
NM_006096.4(NDRG1):c.205+1G>C
NM_006096.4(NDRG1):c.205+1G>T rs1060503092
NM_006096.4(NDRG1):c.205+2T>A rs1586451553
NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)
NM_006096.4(NDRG1):c.368del (p.Pro123fs) rs2130727371
NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)
NM_006096.4(NDRG1):c.510_511insTGTGTGGA (p.Gly171fs)
NM_006096.4(NDRG1):c.518_521dup (p.Trp175fs) rs2130719686
NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)
NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter) rs1855957969
NM_006096.4(NDRG1):c.641del (p.His214fs)
NM_006096.4(NDRG1):c.721C>T (p.Arg241Ter)
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter) rs2128387076
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
NM_014845.6(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.6(FIG4):c.1227del (p.His409fs)
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter) rs2128391439
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs) rs2128391901
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs) rs2128392205
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
NM_014845.6(FIG4):c.1538del (p.Gly513fs) rs1777242231
NM_014845.6(FIG4):c.156del (p.Ile52fs)
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter) rs2128392620
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
NM_014845.6(FIG4):c.1750+1del rs764770160
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter) rs2128394568
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del) rs2128375200
NM_014845.6(FIG4):c.2065dup (p.Thr689fs) rs1777959239
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
NM_014845.6(FIG4):c.2161del (p.Thr721fs) rs2128396856
NM_014845.6(FIG4):c.2180+1del
NM_014845.6(FIG4):c.21del (p.Ile8fs)
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs) rs750712213
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter) rs2128397285
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs) rs1778167481
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) rs1562648414
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) rs1175493477
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
NM_014845.6(FIG4):c.490del (p.Tyr164fs) rs769986219
NM_014845.6(FIG4):c.557del (p.Leu186fs)
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.6(FIG4):c.783del (p.Ile262fs) rs1161553940
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_016156.6(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs) rs1863723947
NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs) rs1590974596
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs) rs758637255
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs) rs1555057316
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter) rs1863365049
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs) rs1590997023
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer) rs1358449243
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.6(MTMR2):c.874del (p.Ser292fs) rs1863944217
NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
NM_016156.6(MTMR2):c.947dup (p.Phe317fs)
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs) rs2127398588
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs) rs2127398558
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer) rs1580901363
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter) rs2127397561
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2127397557
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer) rs2127397555
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs) rs1319576439
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs) rs1754097044
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter) rs770170997
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter) rs1318388071
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) rs1754081385
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter) rs2127393407
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter) rs1580889866
NM_024577.4(SH3TC2):c.3327+1G>A rs2127392839
NM_024577.4(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del) rs1753702797
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.4(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter) rs1754371447
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter) rs2127400649
NM_024577.4(SH3TC2):c.805+2T>C rs139052887
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter) rs1754320158
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) rs1754319130
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs) rs1949709115
NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.4(SBF2):c.2287dup (p.Thr763fs)
NM_030962.4(SBF2):c.2536+1G>A rs1060500001
NM_030962.4(SBF2):c.2655_2658del (p.Cys886fs)
NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
NM_030962.4(SBF2):c.3336del (p.Ala1113fs)
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
NM_030962.4(SBF2):c.4443+1G>A rs1564872328
NM_030962.4(SBF2):c.5037+1G>A rs1060499999
NM_030962.4(SBF2):c.5037+1G>C rs1060499999
NM_030962.4(SBF2):c.5250_5251del (p.Leu1750_Tyr1751insTer)
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter) rs141133392
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)
NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)
NM_181882.3(PRX):c.116_131del (p.Lys39fs)
NM_181882.3(PRX):c.1171del (p.Leu391fs) rs2145731305
NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs)
NM_181882.3(PRX):c.1574del (p.Val525fs) rs752095452
NM_181882.3(PRX):c.1657del (p.Glu553fs)
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs) rs2079441396
NM_181882.3(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_181882.3(PRX):c.1999del (p.Leu667fs)
NM_181882.3(PRX):c.2050C>T (p.Gln684Ter) rs1252279085
NM_181882.3(PRX):c.205C>T (p.Arg69Ter) rs2079467367
NM_181882.3(PRX):c.2180_2181del (p.Ile727fs)
NM_181882.3(PRX):c.2289del (p.Asp765fs) rs797045102
NM_181882.3(PRX):c.2301del (p.Leu768fs)
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter) rs752192677
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2815_2816del (p.Ser939fs) rs2145727806
NM_181882.3(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs) rs1231723888
NM_181882.3(PRX):c.3054del (p.Arg1020fs)
NM_181882.3(PRX):c.3098del (p.Thr1033fs) rs2145727241
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.3275del (p.Val1092fs)
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter) rs964195568
NM_181882.3(PRX):c.353del (p.Lys118fs) rs1568710514
NM_181882.3(PRX):c.458del (p.Pro153fs) rs1599656851
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.3(PRX):c.607C>T (p.Gln203Ter) rs2079456028
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.773_774dup (p.Ser259fs) rs1599656136

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