ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
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.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.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.1401_1403dup (p.Arg467_His468insGln) rs111033219 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_000011.9:g.(?_76866933)_(76908663_?)dup
NC_000011.9:g.(?_76867696)_(76868060_?)dup
NC_000011.9:g.(?_76901732)_(76901925_?)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.1201-2A>G
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.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.18+2T>A rs564622720
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
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.1935+2T>C
NM_000260.4(MYO7A):c.1936-2A>T rs2135424366
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.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.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.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
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.5095C>T (p.Gln1699Ter) rs530520654
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.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.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.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.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.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.977T>A (p.Leu326Gln) rs797044491

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