ClinVar Miner

List of variants in gene MYO7A reported as uncertain significance for Usher syndrome type 1

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Gene type:
ClinVar version:
Total variants: 231
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
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.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.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.*38G>A rs149296177 0.00172
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.-211A>G rs41298129 0.00133
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
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.-154G>A rs545774605 0.00054
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.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) rs140664109 0.00041
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817 0.00036
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044 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.448C>A (p.Arg150=) rs121965079 0.00031
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.2181T>C (p.Phe727=) rs373656667 0.00028
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
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.514C>T (p.Leu172=) rs368246776 0.00023
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 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.19-9C>T rs368452072 0.00020
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 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.970G>T (p.Ala324Ser) rs376348438 0.00019
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00018
NM_000260.4(MYO7A):c.813C>T (p.Gly271=) rs781810349 0.00018
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.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940 0.00014
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) rs754599732 0.00012
NM_000260.4(MYO7A):c.*100C>T rs758099500 0.00011
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 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.3375+14C>A rs782500012 0.00011
NM_000260.4(MYO7A):c.4568+13G>A rs532356676 0.00011
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578 0.00011
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) rs372344870 0.00011
NM_000260.4(MYO7A):c.1201-12A>G rs542772429 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 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.*142A>G rs369873505 0.00009
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) rs375457812 0.00009
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605 0.00009
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000260.4(MYO7A):c.*101G>A rs886048683 0.00007
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) rs782787324 0.00007
NM_000260.4(MYO7A):c.5480+10G>A rs768513428 0.00007
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833 0.00007
NM_000260.4(MYO7A):c.*208C>G rs886048684 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met) rs1367144630 0.00006
NM_000260.4(MYO7A):c.1690+4C>T rs377741637 0.00005
NM_000260.4(MYO7A):c.1690+9G>T rs371146074 0.00005
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) rs953533173 0.00005
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) rs782693893 0.00005
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082 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.6632C>T (p.Ser2211Phe) rs373957005 0.00005
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) rs782505601 0.00005
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1797+13C>T rs782461418 0.00004
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888 0.00004
NM_000260.4(MYO7A):c.3375+12C>T rs781935881 0.00004
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) rs886048671 0.00004
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116 0.00004
NM_000260.4(MYO7A):c.495G>A (p.Thr165=) rs532833627 0.00004
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) rs375627342 0.00004
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=) rs773907543 0.00004
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00004
NM_000260.4(MYO7A):c.-170C>T rs886048667 0.00003
NM_000260.4(MYO7A):c.-20G>A rs886048668 0.00003
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) rs886048676 0.00003
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) rs781916427 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) rs780594308 0.00003
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn) rs370601111 0.00003
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) rs757971917 0.00003
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) rs749146420 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743 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.2679C>T (p.Ala893=) rs782279442 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) rs777008254 0.00002
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311 0.00002
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) rs185061452 0.00002
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346 0.00002
NM_000260.4(MYO7A):c.*201T>C rs942399987 0.00001
NM_000260.4(MYO7A):c.*315C>G rs924986929 0.00001
NM_000260.4(MYO7A):c.*440G>A rs779826272 0.00001
NM_000260.4(MYO7A):c.*75C>T rs1958052155 0.00001
NM_000260.4(MYO7A):c.-196C>T rs886048666 0.00001
NM_000260.4(MYO7A):c.-52C>G rs1950674289 0.00001
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) rs1282033456 0.00001
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314 0.00001
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) rs886048670 0.00001
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087 0.00001
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) rs1241891051 0.00001
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) rs561347333 0.00001
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys) rs781926175 0.00001
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys) rs782189807 0.00001
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met) rs377393431 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.3490C>T (p.Arg1164Trp) rs534291510 0.00001
NM_000260.4(MYO7A):c.3514T>A (p.Tyr1172Asn) rs1955862943 0.00001
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=) rs762101560 0.00001
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln) rs372642675 0.00001
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser) rs755771068 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) rs767426033 0.00001
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=) rs771896529 0.00001
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu) rs753630781 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=) rs747155741 0.00001
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp) rs757984734 0.00001
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) rs773557376 0.00001
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) rs1010166278 0.00001
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) rs749438001 0.00001
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) rs886048682 0.00001
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) rs767931313 0.00001
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) rs371313080 0.00001
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) rs762420918 0.00001
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) rs1381141633 0.00001
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg) rs779090765 0.00001
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) rs779431269 0.00001
NM_000260.4(MYO7A):c.741G>A (p.Leu247=) rs1555063817 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_000260.4(MYO7A):c.*416C>T rs549702559
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys) rs782227657
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) rs886048673
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-7C>G rs886048674
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) rs886048675
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) rs886048669
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=) rs781881163
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met) rs782412089
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn) rs1555078826
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His) rs782176754
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp) rs778880077
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile) rs536410625
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu) rs782192026
NM_000260.4(MYO7A):c.3109-15C>T rs369729874
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=) rs782694195
NM_000260.4(MYO7A):c.3751-14T>C rs1955994846
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser) rs749747871
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser) rs1952429583
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) rs886048677
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys) rs377391891
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln) rs1956761416
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) rs886048678
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=) rs759430551
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys) rs1181067492
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) rs1591467534
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp) rs1957069970
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) rs886048679
NM_000260.4(MYO7A):c.5043+3A>G
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) rs886048680
NM_000260.4(MYO7A):c.5174C>A (p.Pro1725Gln)
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) rs886048681
NM_000260.4(MYO7A):c.5327-10C>G rs781062618
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) rs1957274964
NM_000260.4(MYO7A):c.5589C>T (p.His1863=) rs727504024
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) rs886048672
NM_000260.4(MYO7A):c.5861T>C (p.Leu1954Pro)
NM_000260.4(MYO7A):c.5945-9G>C rs1233077552
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) rs377517717
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile) rs1957642204
NM_000260.4(MYO7A):c.6044A>G (p.Tyr2015Cys) rs2135762121
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile) rs1408119204
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr) rs1591515086
NM_000260.4(MYO7A):c.843G>A (p.Leu281=) rs1555064274
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000260.4(MYO7A):c.[3256del;3260T>C]
NM_000260.4(MYO7A):c.[3784G>A;5086C>T]

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