ClinVar Miner

List of variants in gene MYO7A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_000260.4(MYO7A):c.*392A>G rs144527614 0.00712
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
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.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
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.3750+9G>A rs111033252 0.00197
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
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.4668G>A (p.Pro1556=) rs376892582 0.00058
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.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000260.4(MYO7A):c.4281G>A (p.Thr1427=) rs185607254 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.731G>A (p.Arg244His) rs121965081 0.00030
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 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.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.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu) rs200057810 0.00011
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) rs782711428 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578 0.00011
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) rs370104824 0.00010
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) rs374576916 0.00010
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=) rs560284703 0.00009
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557 0.00009
NM_000260.4(MYO7A):c.4920C>T (p.Gly1640=) rs372882699 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000260.4(MYO7A):c.3651C>T (p.His1217=) rs776731918 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) rs782787324 0.00007
NM_000260.4(MYO7A):c.1221C>T (p.Phe407=) rs782131912 0.00005
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 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.2307C>T (p.Asn769=) rs782329400 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140 0.00004
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) rs548620787 0.00004
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys) rs782364394 0.00003
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) rs377391891 0.00003
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln) rs752881271 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) rs1479835169 0.00002
NM_000260.4(MYO7A):c.5291A>G (p.Glu1764Gly) rs759346941 0.00002
NM_000260.4(MYO7A):c.1094A>C (p.Asp365Ala) rs924913478 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn) rs782313585 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys) rs781869469 0.00001
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) rs767426033 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) rs749438001 0.00001
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=) rs375155751 0.00001
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg) rs779090765 0.00001
NM_000260.4(MYO7A):c.939C>T (p.Thr313=) rs782157346 0.00001
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1135_1147dup (p.Ser383fs)
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His) rs41298143
NM_000260.4(MYO7A):c.2082G>A (p.Pro694=) rs782034714
NM_000260.4(MYO7A):c.2283-8T>C
NM_000260.4(MYO7A):c.2386C>T (p.Arg796Trp) rs111033339
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr) rs117966637
NM_000260.4(MYO7A):c.4037T>C (p.Phe1346Ser) rs767615975
NM_000260.4(MYO7A):c.4152+6dup rs1956152029
NM_000260.4(MYO7A):c.4167T>G (p.Ala1389=)
NM_000260.4(MYO7A):c.4192G>A (p.Val1398Ile) rs369189548
NM_000260.4(MYO7A):c.4442-1G>C rs1485456037
NM_000260.4(MYO7A):c.4664C>A (p.Ser1555Tyr) rs779524499
NM_000260.4(MYO7A):c.4875C>T (p.Leu1625=)
NM_000260.4(MYO7A):c.4997G>T (p.Ser1666Ile)
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5487C>T (p.Ser1829=) rs397516318
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=) rs748080151
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5727T>G (p.Pro1909=)
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.6276C>T (p.Ser2092=) rs2135790712
NM_000260.4(MYO7A):c.655_660del (p.Ile219_His220del) rs1952522892
NM_000260.4(MYO7A):c.783T>A (p.Gly261=) rs762667

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