ClinVar Miner

List of variants studied for Usher syndrome type 1 by Genome-Nilou Lab

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Total variants: 73
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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.5944+57G>A rs948961 0.63248
NM_000260.4(MYO7A):c.2905-54A>G rs7117606 0.62793
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.62749
NM_000260.4(MYO7A):c.3750+89C>T rs2276286 0.61886
NM_000260.4(MYO7A):c.3751-94C>G rs7947922 0.61160
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.4323+35G>T rs1109977 0.59156
NM_000260.4(MYO7A):c.5480+162C>G rs11237120 0.59043
NM_000260.4(MYO7A):c.4324-202A>G rs12421897 0.58253
NM_000260.4(MYO7A):c.5637-175A>G rs4945160 0.58129
NM_000260.4(MYO7A):c.5481-83A>G rs11237121 0.57347
NM_000260.4(MYO7A):c.5856+50G>A rs2276290 0.56770
NM_000260.4(MYO7A):c.6051+17T>A rs1320702 0.56090
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56045
NM_000260.4(MYO7A):c.5944+67C>T rs948960 0.55877
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.55864
NM_000260.4(MYO7A):c.1936-23G>A rs2276283 0.52888
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.50565
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_000260.4(MYO7A):c.2905-162T>G rs59698916 0.48260
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47421
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 0.34666
NM_000260.4(MYO7A):c.6354+35G>A rs3819170 0.25401
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 0.19963
NM_000260.4(MYO7A):c.6558+16G>A rs883224 0.18738
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.4441+148A>G rs4944149 0.04997
NM_000260.4(MYO7A):c.4441+89T>C rs11237115 0.04202
NM_000260.4(MYO7A):c.4441+195G>A rs4945157 0.03562
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01192
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00021
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00018
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00012
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00010
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00004
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00002
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg) rs779090765 0.00002
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) rs1282033456 0.00001
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) rs1241891051 0.00001
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys) rs781926175 0.00001
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys) rs782189807 0.00001
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=) rs762101560 0.00001
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser) rs755771068 0.00001
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=) rs771896529 0.00001
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=) rs747155741 0.00001
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys) rs782227657
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1554+244T>C rs3740763
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met) rs782412089
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.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile) rs1408119204
NM_000260.4(MYO7A):c.843G>A (p.Leu281=) rs1555064274

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