ClinVar Miner

List of variants in gene MYO7A reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 436
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_000260.4(MYO7A):c.6051+17T>A rs1320702 0.56699
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.51057
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_000260.4(MYO7A):c.6558+16G>A rs883224 0.19125
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_000260.4(MYO7A):c.736-15_736-4dup rs111033503 0.01906
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_000260.4(MYO7A):c.1798-15C>T rs115708180 0.00789
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00303
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_000260.4(MYO7A):c.4323+12G>A rs115708951 0.00207
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=) rs144657938 0.00115
NM_000260.4(MYO7A):c.2587-14C>T rs180774455 0.00113
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=) rs370062187 0.00096
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00064
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) rs200848641 0.00059
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624 0.00051
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000260.4(MYO7A):c.1422G>A (p.Gln474=) rs201332147 0.00043
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) rs200359303 0.00036
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940 0.00035
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000260.4(MYO7A):c.6558+9G>A rs111033184 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000260.4(MYO7A):c.5169-5G>A rs727505232 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000260.4(MYO7A):c.2282+5G>A rs540145750 0.00033
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871 0.00031
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.3925-8G>A rs367645097 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667 0.00028
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) rs375200566 0.00027
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776 0.00023
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288 0.00021
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270 0.00019
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00019
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) rs781922871 0.00019
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754 0.00017
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) rs375968860 0.00017
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000260.4(MYO7A):c.3630+7A>G rs373958166 0.00015
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) rs369768947 0.00015
NM_000260.4(MYO7A):c.5115C>T (p.Pro1705=) rs111033411 0.00015
NM_000260.4(MYO7A):c.1587C>T (p.Asn529=) rs372325609 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043 0.00013
NM_000260.4(MYO7A):c.2928G>A (p.Glu976=) rs372223659 0.00013
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452 0.00013
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) rs397516300 0.00013
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000260.4(MYO7A):c.1798-11C>T rs782146561 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.3375+14C>A rs782500012 0.00011
NM_000260.4(MYO7A):c.4568+13G>A rs532356676 0.00011
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) rs540197003 0.00011
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) rs370104824 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00010
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) rs374576916 0.00010
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325 0.00010
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354 0.00010
NM_000260.4(MYO7A):c.2091G>A (p.Lys697=) rs768972429 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557 0.00009
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) rs397516328 0.00009
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224 0.00008
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000260.4(MYO7A):c.2625G>A (p.Ala875=) rs375489617 0.00007
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_000260.4(MYO7A):c.4650G>A (p.Pro1550=) rs751242817 0.00007
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833 0.00007
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) rs370305347 0.00006
NM_000260.4(MYO7A):c.3503+9C>T rs1481745974 0.00006
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.4254C>T (p.Pro1418=) rs548434591 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000260.4(MYO7A):c.1821G>A (p.Ser607=) rs397516288 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys) rs374766654 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180 0.00005
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1690+15C>T rs781801012 0.00004
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509 0.00004
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.2597G>A (p.Arg866His) rs199607235 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.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) rs781893704 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.5748C>T (p.Phe1916=) rs756514910 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000260.4(MYO7A):c.6384C>T (p.Ile2128=) rs748743374 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) rs201046979 0.00003
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339 0.00003
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) rs782726270 0.00003
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu) rs1357072694 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) rs377391891 0.00003
NM_000260.4(MYO7A):c.440G>A (p.Arg147His) rs111033512 0.00003
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) rs376743356 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg) rs372054499 0.00003
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) rs574917232 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000260.4(MYO7A):c.593-4G>A rs876657534 0.00003
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
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.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732 0.00002
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met) rs781958107 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) rs766245260 0.00002
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) rs374492441 0.00002
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.4857C>T (p.Gly1619=) rs749483109 0.00002
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys) rs751860887 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 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.5857-3C>A rs727505114 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346 0.00002
NM_000260.4(MYO7A):c.6264C>T (p.His2088=) rs188278264 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000260.4(MYO7A):c.72C>T (p.Ile24=) rs397516334 0.00002
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282 0.00001
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys) rs876657913 0.00001
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile) rs1162724549 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=) rs375528761 0.00001
NM_000260.4(MYO7A):c.1555-15C>T rs782573211 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met) rs782450807 0.00001
NM_000260.4(MYO7A):c.1797+8G>A rs781801358 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314 0.00001
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437 0.00001
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) rs397516291 0.00001
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) rs782485961 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2094+8G>A rs781886473 0.00001
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=) rs970183279 0.00001
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00001
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys) rs781869469 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.285+14C>G rs876657532 0.00001
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202 0.00001
NM_000260.4(MYO7A):c.4153-10C>G rs397516306 0.00001
NM_000260.4(MYO7A):c.4153-11C>T rs727503330 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val) rs756854177 0.00001
NM_000260.4(MYO7A):c.4695G>A (p.Thr1565=) rs397516313 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.4800G>T (p.Gly1600=) rs397516314 0.00001
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) rs771889662 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5243C>T (p.Thr1748Met) rs752373714 0.00001
NM_000260.4(MYO7A):c.5481-15C>T rs727504955 0.00001
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) rs397516319 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met) rs958153438 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) rs111033250 0.00001
NM_000260.4(MYO7A):c.6029A>G (p.Asp2010Gly) rs111033175 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.6173A>G (p.Lys2058Arg) rs111033336 0.00001
NM_000260.4(MYO7A):c.6205A>T (p.Ile2069Phe) rs1046633522 0.00001
NM_000260.4(MYO7A):c.6339C>A (p.Ala2113=) rs764862807 0.00001
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) rs769205075 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile) rs376900309 0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) rs747095250 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000260.3(MYO7A):c.(?_6355)_(6648_?)del
NM_000260.3(MYO7A):c.1556delG rs606231379
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1133G>C (p.Arg378Pro) rs397516282
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) rs111033286
NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys) rs782293740
NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) rs397516285
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1623C>G (p.Pro541=) rs373327248
NM_000260.4(MYO7A):c.1690+1G>A rs111033389
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer) rs397516290
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) rs797044514
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) rs111033510
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.2039A>G (p.Glu680Gly) rs1555079057
NM_000260.4(MYO7A):c.2094+1G>A rs111033404
NM_000260.4(MYO7A):c.2094+1G>C rs111033404
NM_000260.4(MYO7A):c.2172del (p.Lys725fs) rs397516294
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) rs1224881006
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr) rs1591374351
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.2829G>A (p.Val943=) rs797044494
NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) rs797044489
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3036A>G (p.Thr1012=) rs111033251
NM_000260.4(MYO7A):c.3109-13_3109-12insTCTGGCCTCTGACATGTGCGC rs869312123
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) rs876657654
NM_000260.4(MYO7A):c.3327del (p.His1109fs) rs111033433
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) rs111033239
NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) rs111033482
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) rs797044513
NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) rs397516301
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) rs111033195
NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val) rs1555090958
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) rs397516303
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3] rs759572835
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met) rs774773009
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) rs727504594
NM_000260.4(MYO7A):c.4251C>T (p.Ile1417=) rs397516307
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000260.4(MYO7A):c.4442-2A>C rs111033337
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
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.4568+12C>G rs72933642
NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) rs397516312
NM_000260.4(MYO7A):c.4732G>A (p.Asp1578Asn) rs778007315
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) rs1591467534
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) rs762131185
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5327-11A>G rs397516316
NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) rs727504541
NM_000260.4(MYO7A):c.5486_5487delinsTT (p.Ser1829Ile) rs1957384051
NM_000260.4(MYO7A):c.5487C>T (p.Ser1829=) rs397516318
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5497G>C (p.Gly1833Arg) rs1367496020
NM_000260.4(MYO7A):c.5504A>G (p.Glu1835Gly) rs727503331
NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs) rs397516320
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5600C>T (p.Ala1867Val) rs876657914
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.582del (p.Ile195fs) rs111033238
NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs) rs876657713
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) rs397516324
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) rs397516325
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6054G>A (p.Glu2018=) rs1239820996
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.612C>A (p.Thr204=) rs1555062863
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=) rs727504834
NM_000260.4(MYO7A):c.6267A>G (p.Ala2089=) rs564910239
NM_000260.4(MYO7A):c.6356A>C (p.Gln2119Pro) rs1029122324
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp) rs1555111106
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) rs397516331
NM_000260.4(MYO7A):c.652G>C (p.Asp218His) rs201539845
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe) rs397516333
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.765C>T (p.Phe255=) rs782702948
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) rs369125667
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) rs797044490
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491

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