ClinVar Miner

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

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6558+51G>T rs948959 0.92365
NM_000260.4(MYO7A):c.6438+50A>T rs2276289 0.86951
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_000260.4(MYO7A):c.5944+57G>A rs948961 0.63248
NM_000260.4(MYO7A):c.3750+89C>T rs2276286 0.63230
NM_000260.4(MYO7A):c.2905-54A>G rs7117606 0.62793
NM_000260.4(MYO7A):c.3751-94C>G rs7947922 0.62425
NM_000260.4(MYO7A):c.2367+67T>C rs10793239 0.60184
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_000260.4(MYO7A):c.4324-207C>G rs12802853 0.59234
NM_000260.4(MYO7A):c.4324-202A>G rs12421897 0.59230
NM_000260.4(MYO7A):c.4323+35G>T rs1109977 0.59156
NM_000260.4(MYO7A):c.5637-175A>G rs4945160 0.59068
NM_000260.4(MYO7A):c.5480+162C>G rs11237120 0.59043
NM_000260.4(MYO7A):c.5481-83A>G rs11237121 0.58275
NM_000260.4(MYO7A):c.5856+50G>A rs2276290 0.56770
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.5944+67C>T rs948960 0.56521
NM_000260.4(MYO7A):c.1936-23G>A rs2276283 0.52888
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.2905-162T>G rs59698916 0.48946
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.1080+65T>C rs4944145 0.46104
NM_000260.4(MYO7A):c.6439-31G>A rs883223 0.34445
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_000260.4(MYO7A):c.4442-113A>G rs3781692 0.24810
NM_000260.4(MYO7A):c.133-88C>T rs12279716 0.19502
NM_000260.4(MYO7A):c.6558+16G>A rs883224 0.19125
NM_000260.4(MYO7A):c.736-47C>A rs3737454 0.11805
NM_000260.4(MYO7A):c.1004-35C>G rs2071151 0.09483
NM_000260.4(MYO7A):c.*504C>T rs34765389 0.07374
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_000260.4(MYO7A):c.4441+148A>G rs4944149 0.05652
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_000260.4(MYO7A):c.4441+195G>A rs4945157 0.03958
NM_000260.4(MYO7A):c.*230A>G rs112830819 0.03507
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.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_000260.4(MYO7A):c.*363A>C rs115872143 0.01894
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
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.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1554+244T>C rs3740763
NM_000260.4(MYO7A):c.2695-58C>G rs3740762
NM_000260.4(MYO7A):c.3375+33G>C rs948972
NM_000260.4(MYO7A):c.3924+109G>A rs4944148
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.6559-11C>T rs34517202

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