ClinVar Miner

List of variants in gene MYO7A reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_000260.4(MYO7A):c.6051+17T>A rs1320702 0.56699
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.51057
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_000260.4(MYO7A):c.6558+16G>A rs883224 0.19125
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_000260.4(MYO7A):c.736-15_736-4dup rs111033503 0.01906
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_000260.4(MYO7A):c.1798-15C>T rs115708180 0.00789
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.133-14C>T rs116228809 0.00719
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
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 0.00512
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.1605C>T (p.Asn535=) rs111033228 0.00336
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00303
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
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.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.510G>A (p.Leu170=) rs34477144 0.00138
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000260.4(MYO7A):c.2587-14C>T rs180774455 0.00113
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) rs397516300 0.00013
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) rs540197003 0.00011
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
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.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081

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