ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
Download table as spreadsheet
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.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 0.19502
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.4441+148A>G rs4944149 0.05652
NM_000260.4(MYO7A):c.4441+89T>C rs11237115 0.04804
NM_000260.4(MYO7A):c.4441+195G>A rs4945157 0.03958
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
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 0.00023
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
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.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) rs1282033456 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 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.2467C>T (p.Arg823Cys) rs995330889 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.6203T>G (p.Leu2068Arg) rs779090765 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

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.