ClinVar Miner

List of variants in gene MYO7A reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 421
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs) rs782312060 0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro) rs1325184426 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp) rs866352637 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.133-2A>G rs782064437 0.00001
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012 0.00001
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909 0.00001
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) rs397516291 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281 0.00001
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter) rs1461201353 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132 0.00001
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter) rs1334199217 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.2695-9A>G rs1397029418 0.00001
NM_000260.4(MYO7A):c.2838del (p.Met946fs) rs782636104 0.00001
NM_000260.4(MYO7A):c.285+1G>C rs782661097 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913 0.00001
NM_000260.4(MYO7A):c.321_322insA (p.Tyr108fs) rs1324244950 0.00001
NM_000260.4(MYO7A):c.3249C>A (p.Tyr1083Ter) rs1412474435 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter) rs548381313 0.00001
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp) rs371374104 0.00001
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148 0.00001
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110 0.00001
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) rs778934538 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter) rs1236207116 0.00001
NM_000260.4(MYO7A):c.5458C>T (p.Gln1820Ter) rs369973293 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718 0.00001
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964 0.00001
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428 0.00001
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) rs1173853484 0.00001
NM_000260.4(MYO7A):c.6043T>C (p.Tyr2015His) rs377640847 0.00001
NM_000260.4(MYO7A):c.6051+2T>C rs1353598791 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802 0.00001
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter) rs776930594 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NC_000011.10:g.(?_77166046)_(77177653_?)del
NC_000011.10:g.(?_77208430)_(77211937_?)del
NC_000011.10:g.77158278del rs2135256121
NC_000011.10:g.77172749del rs2135406224
NC_000011.9:g.(?_76841681)_(76841718_?)del
NC_000011.9:g.(?_76853735)_(76877228_?)del
NC_000011.9:g.(?_76858824)_(76869496_?)del
NC_000011.9:g.(?_76858834)_(76877218_?)del
NC_000011.9:g.(?_76890071)_(76892655_?)del
NC_000011.9:g.(?_76892406)_(76925741_?)del
NC_000011.9:g.(?_76909274)_(76910667_?)del
NC_000011.9:g.(?_76922177)_(76925741_?)del
NM_000260.4(MYO7A):c.1003+1G>A rs1952694662
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) rs782639389
NM_000260.4(MYO7A):c.1059_1075del (p.Ala353_Thr354insTer) rs2135270511
NM_000260.4(MYO7A):c.1074del (p.Glu360fs) rs1952797903
NM_000260.4(MYO7A):c.1076_1077dup (p.Glu360fs)
NM_000260.4(MYO7A):c.1080+1G>A rs2135270924
NM_000260.4(MYO7A):c.1091del (p.Pro364fs)
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs) rs1952854443
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) rs1951308166
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) rs387906700
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1227G>A (p.Trp409Ter) rs2135287852
NM_000260.4(MYO7A):c.1309G>A (p.Asp437Asn)
NM_000260.4(MYO7A):c.133-1G>T rs1951682627
NM_000260.4(MYO7A):c.1342_1343del (p.Ser448fs)
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1350_1359dup (p.Ile454fs)
NM_000260.4(MYO7A):c.1353_1360del (p.Gln451fs) rs1555069242
NM_000260.4(MYO7A):c.1357T>C (p.Cys453Arg)
NM_000260.4(MYO7A):c.1359C>A (p.Cys453Ter) rs1555069272
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000260.4(MYO7A):c.1384C>T (p.Gln462Ter)
NM_000260.4(MYO7A):c.1385A>C (p.Gln462Pro)
NM_000260.4(MYO7A):c.139_161dup (p.His55fs)
NM_000260.4(MYO7A):c.13C>T (p.Gln5Ter) rs1950740762
NM_000260.4(MYO7A):c.1426G>T (p.Glu476Ter) rs1953066558
NM_000260.4(MYO7A):c.152_156dup (p.Ala53fs)
NM_000260.4(MYO7A):c.1555-1G>A rs2135310334
NM_000260.4(MYO7A):c.1555-1G>C
NM_000260.4(MYO7A):c.1574T>G (p.Leu525Ter) rs1953131447
NM_000260.4(MYO7A):c.1623del (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1677C>G (p.Tyr559Ter)
NM_000260.4(MYO7A):c.1687C>T (p.Gln563Ter)
NM_000260.4(MYO7A):c.1690+1G>A rs111033389
NM_000260.4(MYO7A):c.1717del (p.Leu573fs) rs1953513223
NM_000260.4(MYO7A):c.1771C>T (p.Gln591Ter) rs1953519454
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-2A>C rs894309052
NM_000260.4(MYO7A):c.1798-2A>G
NM_000260.4(MYO7A):c.18+1G>A
NM_000260.4(MYO7A):c.18+2T>C
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer) rs2135406725
NM_000260.4(MYO7A):c.183del (p.Thr62fs) rs1446588093
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) rs121965083
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter) rs1954248090
NM_000260.4(MYO7A):c.1918G>T (p.Glu640Ter) rs1555077319
NM_000260.4(MYO7A):c.1935+1G>A rs1343207038
NM_000260.4(MYO7A):c.1940del (p.Phe647fs) rs1555078815
NM_000260.4(MYO7A):c.1954T>C (p.Cys652Arg)
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.19G>C (p.Gly7Arg)
NM_000260.4(MYO7A):c.2003G>A (p.Arg668His) rs368575149
NM_000260.4(MYO7A):c.2019del (p.Ile674fs) rs1261771810
NM_000260.4(MYO7A):c.2035dup (p.Val679fs) rs1565390318
NM_000260.4(MYO7A):c.2075_2076del (p.Val692fs)
NM_000260.4(MYO7A):c.2116C>T (p.Gln706Ter) rs1954549039
NM_000260.4(MYO7A):c.211_215dup (p.Leu73fs)
NM_000260.4(MYO7A):c.2131dup (p.Ala711fs) rs2135430236
NM_000260.4(MYO7A):c.2156G>A (p.Trp719Ter)
NM_000260.4(MYO7A):c.2164G>C (p.Gly722Arg) rs1954557651
NM_000260.4(MYO7A):c.2172del (p.Lys725fs) rs397516294
NM_000260.4(MYO7A):c.2186del (p.Lys729fs) rs2135430894
NM_000260.4(MYO7A):c.2187+2_2187+8del
NM_000260.4(MYO7A):c.2227del (p.Ala743fs)
NM_000260.4(MYO7A):c.2239dup (p.Arg747fs)
NM_000260.4(MYO7A):c.223del (p.Asp75fs) rs876657415
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
NM_000260.4(MYO7A):c.2282+1G>A
NM_000260.4(MYO7A):c.2283-1G>A
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.2367+1G>A rs2135465268
NM_000260.4(MYO7A):c.2440dup (p.Arg814fs) rs2135472044
NM_000260.4(MYO7A):c.2498del (p.Phe833fs)
NM_000260.4(MYO7A):c.2500del (p.Arg834fs)
NM_000260.4(MYO7A):c.2533_2534del (p.Ala845fs)
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter) rs1555082994
NM_000260.4(MYO7A):c.2582del (p.Ala861fs)
NM_000260.4(MYO7A):c.2589T>A (p.Tyr863Ter)
NM_000260.4(MYO7A):c.2593_2602del (p.Trp865fs)
NM_000260.4(MYO7A):c.2619del (p.Leu874fs)
NM_000260.4(MYO7A):c.2661del (p.Lys888fs) rs2135478379
NM_000260.4(MYO7A):c.267C>G (p.Tyr89Ter)
NM_000260.4(MYO7A):c.2707C>T (p.Gln903Ter) rs1955169360
NM_000260.4(MYO7A):c.2722del (p.Asp908fs) rs2135486189
NM_000260.4(MYO7A):c.274del (p.His92fs)
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) rs1591378140
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) rs1296612982
NM_000260.4(MYO7A):c.285+1G>A
NM_000260.4(MYO7A):c.285+2T>A
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.285C>A (p.Tyr95Ter) rs1555054892
NM_000260.4(MYO7A):c.2875C>T (p.Gln959Ter) rs1555084324
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.2958del (p.Leu988fs)
NM_000260.4(MYO7A):c.2982_2983dup (p.Asp995fs)
NM_000260.4(MYO7A):c.2997T>A (p.Tyr999Ter) rs2135493809
NM_000260.4(MYO7A):c.3040del (p.Thr1014fs)
NM_000260.4(MYO7A):c.3098dup (p.Gly1033_Asp1034insTer)
NM_000260.4(MYO7A):c.3126G>A (p.Trp1042Ter)
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs) rs1955319492
NM_000260.4(MYO7A):c.3143del (p.Phe1048fs) rs1955320652
NM_000260.4(MYO7A):c.3171C>G (p.Tyr1057Ter) rs868993459
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.325C>T (p.Gln109Ter)
NM_000260.4(MYO7A):c.3262dup (p.Gln1088fs)
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.3304C>T (p.Gln1102Ter) rs2135504652
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs) rs1064793208
NM_000260.4(MYO7A):c.3412C>T (p.Gln1138Ter)
NM_000260.4(MYO7A):c.3430del (p.Glu1144fs)
NM_000260.4(MYO7A):c.3446_3447insA (p.Asn1150fs)
NM_000260.4(MYO7A):c.3461T>C (p.Leu1154Pro)
NM_000260.4(MYO7A):c.3470T>A (p.Ile1157Asn)
NM_000260.4(MYO7A):c.348_349insCCCA (p.Glu117fs)
NM_000260.4(MYO7A):c.3504-1G>A
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) rs111033239
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3564_3570del (p.Ser1187_Tyr1188insTer) rs1955867564
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.358del (p.Arg120fs) rs2135227044
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3612del (p.Ser1205fs)
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) rs878853376
NM_000260.4(MYO7A):c.3664_3673del (p.Gly1222fs)
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) rs397516303
NM_000260.4(MYO7A):c.3722_3723insT (p.Gln1242fs)
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3729dup (p.Pro1244fs) rs1955941699
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.376A>T (p.Lys126Ter) rs2135227381
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs) rs2135562294
NM_000260.4(MYO7A):c.385G>T (p.Glu129Ter) rs1952428470
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs) rs760251968
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3892G>C (p.Gly1298Arg)
NM_000260.4(MYO7A):c.3904del (p.Tyr1302fs)
NM_000260.4(MYO7A):c.3944_3945dup (p.Ser1316fs) rs1956125716
NM_000260.4(MYO7A):c.3957dup (p.Met1320fs) rs1956127429
NM_000260.4(MYO7A):c.395C>T (p.Pro132Leu) rs370395532
NM_000260.4(MYO7A):c.3978C>A (p.Cys1326Ter)
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397del (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3998del (p.Gln1333fs) rs2135575726
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4031T>C (p.Leu1344Pro) rs2135576239
NM_000260.4(MYO7A):c.4043_4044del (p.Lys1348fs)
NM_000260.4(MYO7A):c.4045G>T (p.Glu1349Ter)
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.4183C>T (p.Gln1395Ter)
NM_000260.4(MYO7A):c.4183del (p.Gln1395fs)
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4225del (p.Leu1409fs) rs1398609491
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.426C>A (p.Tyr142Ter)
NM_000260.4(MYO7A):c.4288A>T (p.Lys1430Ter) rs2135620410
NM_000260.4(MYO7A):c.4330dup (p.Tyr1444fs)
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter) rs1956759935
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000260.4(MYO7A):c.4422T>G (p.Tyr1474Ter) rs2135658805
NM_000260.4(MYO7A):c.4436del (p.Phe1479fs) rs2135659017
NM_000260.4(MYO7A):c.4474del (p.Ala1492fs)
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4510C>T (p.Gln1504Ter)
NM_000260.4(MYO7A):c.4521_4522del (p.Leu1508fs) rs2135670160
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.4(MYO7A):c.4555del (p.Val1519fs) rs876657712
NM_000260.4(MYO7A):c.4564dup (p.Ser1522fs)
NM_000260.4(MYO7A):c.4613del (p.Cys1538fs) rs1956916004
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) rs1952434877
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4650_4659del (p.Ala1551fs)
NM_000260.4(MYO7A):c.4674G>A (p.Trp1558Ter) rs2135680215
NM_000260.4(MYO7A):c.4770dup (p.Arg1591fs) rs2135681132
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4800del (p.Leu1601fs) rs1183407733
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4834C>T (p.Gln1612Ter)
NM_000260.4(MYO7A):c.4858G>T (p.Glu1620Ter)
NM_000260.4(MYO7A):c.486_593-20delinsAG rs2135235196
NM_000260.4(MYO7A):c.4891_4892del (p.Asp1631fs) rs2135698596
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.492G>C (p.Lys164Asn) rs1952491231
NM_000260.4(MYO7A):c.4943G>A (p.Trp1648Ter) rs2135699140
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.4959del (p.Asn1653fs) rs2135699333
NM_000260.4(MYO7A):c.496G>T (p.Glu166Ter)
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.5035G>T (p.Glu1679Ter)
NM_000260.4(MYO7A):c.5040dup (p.Val1681fs) rs1219910828
NM_000260.4(MYO7A):c.5074C>T (p.Gln1692Ter) rs564645548
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5134dup (p.Tyr1712fs)
NM_000260.4(MYO7A):c.5156_5157del (p.Ser1718_Tyr1719insTer) rs1957127300
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5208del (p.Lys1737fs)
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter)
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5300C>A (p.Ser1767Ter) rs757896867
NM_000260.4(MYO7A):c.5340C>A (p.Tyr1780Ter)
NM_000260.4(MYO7A):c.5340C>G (p.Tyr1780Ter)
NM_000260.4(MYO7A):c.5358del (p.Lys1787fs)
NM_000260.4(MYO7A):c.5374_5380dup (p.Glu1794fs) rs2135721049
NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter)
NM_000260.4(MYO7A):c.5420_5421dup (p.Pro1808fs) rs1591479405
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) rs778009227
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5446C>T (p.Gln1816Ter)
NM_000260.4(MYO7A):c.5481-1G>A
NM_000260.4(MYO7A):c.5502G>A (p.Trp1834Ter) rs2135732554
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His) rs1385324903
NM_000260.4(MYO7A):c.5515_5522dup (p.Gly1842fs)
NM_000260.4(MYO7A):c.551G>A (p.Trp184Ter)
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5576del (p.Gln1859fs) rs2135733500
NM_000260.4(MYO7A):c.55G>T (p.Glu19Ter) rs781869170
NM_000260.4(MYO7A):c.5623C>T (p.Gln1875Ter) rs899950389
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.5636+1G>A
NM_000260.4(MYO7A):c.5712_5713del (p.His1904fs) rs2135739702
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.5755G>T (p.Glu1919Ter)
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter) rs1957512851
NM_000260.4(MYO7A):c.5822_5823del (p.Glu1941fs) rs1957517926
NM_000260.4(MYO7A):c.582del (p.Ile195fs) rs111033238
NM_000260.4(MYO7A):c.5835_5836del (p.Phe1946fs)
NM_000260.4(MYO7A):c.5837_5838del (p.Phe1946fs) rs1957520269
NM_000260.4(MYO7A):c.5854A>T (p.Lys1952Ter)
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.5887_5889del (p.Phe1963del) rs1025915101
NM_000260.4(MYO7A):c.5898_5899delinsGT (p.Arg1967Ter)
NM_000260.4(MYO7A):c.5899del (p.Arg1967fs)
NM_000260.4(MYO7A):c.5906dup (p.Leu1969fs) rs772008531
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter) rs1957642707
NM_000260.4(MYO7A):c.6017_6018del (p.Asp2006fs)
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6044_6047dup (p.Tyr2016Ter) rs1591496649
NM_000260.4(MYO7A):c.6049C>T (p.Gln2017Ter) rs2135762199
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6089del (p.Thr2030fs) rs2135784410
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter) rs1957842461
NM_000260.4(MYO7A):c.6114_6115del (p.Leu2040fs)
NM_000260.4(MYO7A):c.6124dup (p.Tyr2042fs)
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) rs1957844295
NM_000260.4(MYO7A):c.6130del (p.Val2044fs)
NM_000260.4(MYO7A):c.616del (p.Arg206fs)
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter) rs530700420
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6196del (p.Gln2066fs) rs1472611150
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs) rs2135785861
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000260.4(MYO7A):c.6232A>T (p.Lys2078Ter) rs1957851371
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.6290del (p.Lys2097fs)
NM_000260.4(MYO7A):c.6297del (p.Phe2100fs) rs2135790890
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.6348_6352dup (p.Lys2118delinsArgTer) rs2135791384
NM_000260.4(MYO7A):c.6350del (p.Val2117fs) rs2135791473
NM_000260.4(MYO7A):c.6354+1G>C
NM_000260.4(MYO7A):c.6368del (p.Pro2123fs) rs2135798718
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs) rs2135798786
NM_000260.4(MYO7A):c.6412del (p.Val2138fs) rs2135799043
NM_000260.4(MYO7A):c.6424dup (p.Asp2142fs) rs2135799143
NM_000260.4(MYO7A):c.6439-1G>A rs1591514873
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) rs397516331
NM_000260.4(MYO7A):c.6546C>A (p.Cys2182Ter)
NM_000260.4(MYO7A):c.6547G>T (p.Glu2183Ter)
NM_000260.4(MYO7A):c.674dup (p.Ala226fs)
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter) rs1555063281
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.73_98dup (p.Gly34_Gln35insArgTrpTerGly) rs2135627311
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) rs369125667
NM_000260.4(MYO7A):c.790dup (p.Glu264fs)
NM_000260.4(MYO7A):c.795_799dup (p.Lys267fs) rs2135244802
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter) rs2135244869
NM_000260.4(MYO7A):c.807_808del (p.Lys269fs)
NM_000260.4(MYO7A):c.826del (p.Ser276fs)
NM_000260.4(MYO7A):c.846dup (p.Met283fs)
NM_000260.4(MYO7A):c.849+1G>A rs781916556
NM_000260.4(MYO7A):c.849+1G>C rs781916556
NM_000260.4(MYO7A):c.849+2T>C rs2135245850
NM_000260.4(MYO7A):c.868G>T (p.Glu290Ter) rs2135256420
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.999T>A (p.Tyr333Ter) rs111033285

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