ClinVar Miner

List of variants in gene MYO7A reported as likely benign for Usher syndrome type 1

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6354+35G>A rs3819170 0.25401
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_000260.4(MYO7A):c.4441+89T>C rs11237115 0.04202
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.01973
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01687
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01192
NM_000260.4(MYO7A):c.*442T>C rs115238711 0.00895
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.*392A>G rs144527614 0.00712
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00668
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 0.00497
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.905G>A (p.Arg302His) rs41298135 0.00281
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00277
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00224
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
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.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00086
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00074
NM_000260.4(MYO7A):c.2283-20C>T rs371838579 0.00068
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00066
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
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.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00018
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=) rs371789765 0.00016
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043 0.00013
NM_000260.4(MYO7A):c.4442-7G>A rs372023062 0.00013
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00012
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) rs540197003 0.00011
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=) rs369466539 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.3987C>T (p.Tyr1329=) rs560284703 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=) rs554789699 0.00008
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928 0.00007
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=) rs372336857 0.00007
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00007
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876 0.00005
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) rs782554940 0.00004
NM_000260.4(MYO7A):c.444C>T (p.Asn148=) rs1253765162 0.00004
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) rs548620787 0.00004
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631 0.00003
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=) rs189972611 0.00003
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00003
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=) rs187679481 0.00001
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437 0.00001
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=) rs782192254 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297 0.00001
NM_000260.4(MYO7A):c.345G>A (p.Ser115=) rs781980240 0.00001
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) rs751497005 0.00001
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=) rs568414079 0.00001
NM_000260.4(MYO7A):c.5637-173C>T rs207472020 0.00001
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=) rs375155751 0.00001
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329 0.00001
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) rs377251326 0.00001
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) rs543234546
NM_000260.4(MYO7A):c.4568+10C>A rs367801483
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
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.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081

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