ClinVar Miner

List of variants in gene MYO7A reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 193
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1970G>A (p.Arg657Gln) rs375457812 0.00009
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 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.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
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.2002C>T (p.Arg668Cys) rs397516292 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.616C>T (p.Arg206Cys) rs782361954 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.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.133-2A>G rs782064437 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 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.3728C>T (p.Pro1243Leu) rs750358148 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4569-1G>A rs775792432 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5480+1G>A rs749236379 0.00001
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5636+2T>A rs1057518040 0.00001
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718 0.00001
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286 0.00001
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037 0.00001
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg) rs1029122324 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_000260.4(MYO7A):c.849G>A (p.Met283Ile) rs1280774223 0.00001
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NC_000011.9:g.(?_76866933)_(76908663_?)dup
NC_000011.9:g.(?_76867696)_(76868060_?)dup
NC_000011.9:g.(?_76890171)_(76892077_?)del
NC_000011.9:g.(?_76894093)_(76915294_?)dup
NC_000011.9:g.(?_76901732)_(76901925_?)del
NC_000011.9:g.(?_76911660)_(76917177_?)del
NC_000011.9:g.(?_76924874)_(76927099_?)del
NM_000260.4(MYO7A):c.1003+1_1003+33delinsCAGTGCCTTG rs1952694787
NM_000260.4(MYO7A):c.1004-1G>A
NM_000260.4(MYO7A):c.1004-7C>G
NM_000260.4(MYO7A):c.1081-1G>C
NM_000260.4(MYO7A):c.1135_1147dup (p.Ser383fs)
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
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.1190C>G (p.Ala397Gly)
NM_000260.4(MYO7A):c.1190C>T (p.Ala397Val)
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1201-1G>A
NM_000260.4(MYO7A):c.1201-2A>G
NM_000260.4(MYO7A):c.1217T>C (p.Leu406Pro)
NM_000260.4(MYO7A):c.1254_1263del (p.Tyr419fs)
NM_000260.4(MYO7A):c.133del rs1591224147
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.1355dup (p.Cys453fs)
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) rs111033286
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1652T>C (p.Ile551Thr) rs1131691833
NM_000260.4(MYO7A):c.1666G>A (p.Gly556Ser)
NM_000260.4(MYO7A):c.1690G>A (p.Gly564Ser)
NM_000260.4(MYO7A):c.1798-1G>T rs1555076948
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000260.4(MYO7A):c.1838A>C (p.Gln613Pro)
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) rs797044514
NM_000260.4(MYO7A):c.1904G>A (p.Cys635Tyr)
NM_000260.4(MYO7A):c.1936-2A>T rs2135424366
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val) rs1555078946
NM_000260.4(MYO7A):c.2003G>C (p.Arg668Pro) rs368575149
NM_000260.4(MYO7A):c.202_285+34del
NM_000260.4(MYO7A):c.2094+1G>A rs111033404
NM_000260.4(MYO7A):c.2164G>C (p.Gly722Arg) rs1954557651
NM_000260.4(MYO7A):c.2219G>C (p.Arg740Pro) rs782276748
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2557C>A (p.Arg853Ser)
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000260.4(MYO7A):c.2586+1G>A rs2135473984
NM_000260.4(MYO7A):c.2694+1G>A rs1955083613
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
NM_000260.4(MYO7A):c.284A>G (p.Tyr95Cys) rs797044489
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.2905-2A>C rs782504358
NM_000260.4(MYO7A):c.2905-2A>G
NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022fs) rs1064796130
NM_000260.4(MYO7A):c.3080T>C (p.Leu1027Pro)
NM_000260.4(MYO7A):c.3108+1G>A rs2135495180
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.3285+1G>A
NM_000260.4(MYO7A):c.3285+1_3285+2insGCGGGG rs2135499848
NM_000260.4(MYO7A):c.3376-1G>A rs2135517143
NM_000260.4(MYO7A):c.3503+1G>T
NM_000260.4(MYO7A):c.3503+1_3503+12delinsC rs2135518421
NM_000260.4(MYO7A):c.3503+2T>C
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3545A>G (p.Asn1182Ser)
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr) rs117966637
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) rs111033195
NM_000260.4(MYO7A):c.3892G>T (p.Gly1298Trp)
NM_000260.4(MYO7A):c.3925-1G>T rs2135574922
NM_000260.4(MYO7A):c.3935T>C (p.Leu1312Pro)
NM_000260.4(MYO7A):c.3979G>C (p.Glu1327Gln) rs373169422
NM_000260.4(MYO7A):c.3981G>C (p.Glu1327Asp) rs2135575577
NM_000260.4(MYO7A):c.399C>G (p.His133Gln)
NM_000260.4(MYO7A):c.4037T>C (p.Phe1346Ser) rs767615975
NM_000260.4(MYO7A):c.4039C>G (p.Arg1347Gly)
NM_000260.4(MYO7A):c.4074del (p.Glu1359fs) rs754104546
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter) rs760292207
NM_000260.4(MYO7A):c.4323+1G>A
NM_000260.4(MYO7A):c.4324-1G>A rs2135657252
NM_000260.4(MYO7A):c.4441+1G>A
NM_000260.4(MYO7A):c.4442-1G>A rs1485456037
NM_000260.4(MYO7A):c.4442-1G>C rs1485456037
NM_000260.4(MYO7A):c.4442-2A>C rs111033337
NM_000260.4(MYO7A):c.4490G>T (p.Gly1497Val) rs2135669847
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4568+1G>A rs1956849074
NM_000260.4(MYO7A):c.4569-2A>C rs1956912294
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.4715T>C (p.Leu1572Pro) rs1956925123
NM_000260.4(MYO7A):c.4814C>A (p.Ser1605Tyr)
NM_000260.4(MYO7A):c.4852+798_5673del
NM_000260.4(MYO7A):c.5043+1G>A
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5044-2A>G rs1474868859
NM_000260.4(MYO7A):c.5168G>A (p.Arg1723Lys)
NM_000260.4(MYO7A):c.5169-2A>G rs2135712224
NM_000260.4(MYO7A):c.5320T>C (p.Phe1774Leu)
NM_000260.4(MYO7A):c.5327-14T>G
NM_000260.4(MYO7A):c.5333T>C (p.Leu1778Pro)
NM_000260.4(MYO7A):c.5344G>A (p.Gly1782Ser)
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5373_5379delinsACCGACCA (p.Val1792fs)
NM_000260.4(MYO7A):c.5398T>C (p.Phe1800Leu)
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5471_5480+5del rs1591479665
NM_000260.4(MYO7A):c.5480+2T>A rs2135722358
NM_000260.4(MYO7A):c.5480+2T>C rs2135722358
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5565del (p.Gln1855fs) rs2135733332
NM_000260.4(MYO7A):c.5637-1G>T rs2135738753
NM_000260.4(MYO7A):c.5659C>T (p.Pro1887Ser)
NM_000260.4(MYO7A):c.5743-2A>G rs752310721
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5857-1_5857delinsAT rs2135757801
NM_000260.4(MYO7A):c.592+1G>C
NM_000260.4(MYO7A):c.593-1G>A
NM_000260.4(MYO7A):c.593-1del
NM_000260.4(MYO7A):c.593-2A>G rs782186293
NM_000260.4(MYO7A):c.5943_5944+12del
NM_000260.4(MYO7A):c.5994G>T (p.Trp1998Cys)
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) rs397516325
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg) rs2135762079
NM_000260.4(MYO7A):c.6050_6051+9del
NM_000260.4(MYO7A):c.6052-2A>G
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro) rs770778096
NM_000260.4(MYO7A):c.6231G>C (p.Trp2077Cys)
NM_000260.4(MYO7A):c.6237+1G>A rs1338605788
NM_000260.4(MYO7A):c.6238-1G>A rs1957902751
NM_000260.4(MYO7A):c.6238-2A>G rs1555109612
NM_000260.4(MYO7A):c.6238-2A>T rs1555109612
NM_000260.4(MYO7A):c.6355-2A>G rs1957972028
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) rs1223784415
NM_000260.4(MYO7A):c.6558+1G>A
NM_000260.4(MYO7A):c.6558+1G>T
NM_000260.4(MYO7A):c.707T>A (p.Leu236Gln)
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) rs369125667
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.