ClinVar Miner

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

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 467
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
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_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00017
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
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_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_001370298.3(FGD4):c.1402del (p.Gln468fs) rs1393673267 0.00004
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp) rs538389475 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_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) rs150989205 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 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.50T>C (p.Leu17Pro) rs587777713 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) rs587777714 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 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_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
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_001370298.3(FGD4):c.2167G>T (p.Gly723Ter) rs118203973 0.00001
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986 0.00001
NM_003172.4(SURF1):c.107-2A>G rs782726390 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.290-2A>T rs587777715 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_016156.6(MTMR2):c.883C>T (p.Arg295Ter) rs1171462240 0.00001
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser) rs769632836 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter) rs751986220 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter) rs779894269 0.00001
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 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
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
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_000008.10:g.(?_75262697)_(75276602_?)del
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)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
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_001242898.2(PPP6R2):c.228-326A>G rs2147148112
NM_001358263.1(HK1):c.-270G>C rs397514654
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>C (p.Met435Thr) rs63749871
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.1740C>A (p.Tyr580Ter) rs886041200
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter) rs2136932206
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs) rs1565921326
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
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.2622dup (p.Ala875fs) rs1565942358
NM_001370298.3(FGD4):c.616del (p.Gln206fs) rs2136432373
NM_001370298.3(FGD4):c.925del (p.Ala309fs) rs1565869918
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.2289C>T (p.Arg763=) rs2148590692
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
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.237C>A (p.Tyr79Ter) rs199928197
NM_006096.4(NDRG1):c.327-1G>A rs2130727581
NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)
NM_006096.4(NDRG1):c.368del (p.Pro123fs) rs2130727371
NM_006096.4(NDRG1):c.389+92_594+1717dup
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.537+2_537+10del rs2130719557
NM_006096.4(NDRG1):c.538-1G>A rs11575976
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_006096.4(NDRG1):c.944-1G>T rs1588216753
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.2174dup (p.Leu726fs) rs1562685713
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.290-2A>G rs587777715
NM_014845.6(FIG4):c.294del (p.Phe98fs) rs1562648373
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.773C>G (p.Ser258Ter)
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.1096del (p.Lys367fs)
NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs) rs1863723947
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
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.1479+1G>A rs1590974546
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) rs1590971080
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.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) rs1863269109
NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter) rs115506357
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.826G>T (p.Glu276Ter) rs121434403
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_018972.2(GDAP1):c.[347T>C];[62delA]
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.139A>T (p.Lys47Ter)
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter) rs2131493453
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
NM_018972.4(GDAP1):c.1del (p.Met1fs)
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter) rs1586794015
NM_018972.4(GDAP1):c.235_239del (p.Val79fs) rs1243845978
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter) rs1808867656
NM_018972.4(GDAP1):c.250del (p.Glu84fs) rs1241632021
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs) rs2131493519
NM_018972.4(GDAP1):c.310+1G>A rs1808872865
NM_018972.4(GDAP1):c.361del (p.Val121fs) rs2131512540
NM_018972.4(GDAP1):c.367del (p.His123fs)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.536del (p.Pro179fs) rs1169652308
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter) rs1085307665
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.618dup (p.Lys207fs) rs1809447471
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) rs1417699318
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs) rs2127398588
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs) rs2127398558
NM_024577.4(SH3TC2):c.1178-1G>A rs80338922
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)
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.1691A>G (p.Asp564Gly)
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs) rs1319576439
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu) rs1196218767
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
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.2189del (p.Gly730fs) rs1580900473
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter) rs1318388071
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs) rs2127402263
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.2599C>T (p.Gln867Ter) rs2127397072
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu) rs2127401458
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
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.3341del (p.Pro1114fs) rs80338936
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.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.3675+2dup rs1554120215
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter) rs1754425628
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.4(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) rs1580917136
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter) rs1580917130
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.731+2T>G rs2127400622
NM_024577.4(SH3TC2):c.805+2T>C rs139052887
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter) rs1754320158
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
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.929dup (p.Ser312fs) rs2127399983
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
NM_024577.4(SH3TC2):c.974del (p.Asn325fs) rs1580907885
NM_030962.4(SBF2):c.1088_1296+646del
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.2055T>G (p.Tyr685Ter) rs2134006623
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.2875C>T (p.Gln959Ter) rs120074137
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.4443+1G>C rs1564872328
NM_030962.4(SBF2):c.4877del (p.Pro1626fs) rs1852575488
NM_030962.4(SBF2):c.5037+1G>A rs1060499999
NM_030962.4(SBF2):c.5037+1G>C rs1060499999
NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter) rs1590076969
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.1194_1197del (p.Leu400fs) rs1599655206
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.1951G>A (p.Asp651Asn) rs3814290
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.2581del (p.Leu861fs) rs2145728259
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.3703G>T (p.Glu1235Ter) rs1385904344
NM_181882.3(PRX):c.385_394dup (p.Leu132fs) rs1599656972
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
NM_181882.3(PRX):c.979del (p.Asp327fs) rs1568708792

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