ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by Myriad Genetics, Inc.

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter) rs1461201353 0.00001
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter) rs1407313220 0.00001
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter) rs1951307710
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) rs1951308166
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter) rs1953058015
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter) rs1953066164
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter) rs1954237712
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter) rs1954248090
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter) rs1954250327
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter) rs1954477050
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter) rs1555082575
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter) rs1955017383
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter) rs1407246264
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter) rs1955177223
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter) rs1955180601
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter) rs1955281533
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter) rs1955333327
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter) rs1307924861
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter) rs1555051419
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter) rs1956130442
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter) rs1956149175
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter) rs1956480240
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter) rs1956485578
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter) rs1956496669
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter) rs1956761177
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter) rs1956761416
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter) rs1956843097
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter) rs1181067492
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter) rs1591474980
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter) rs768418736
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter) rs1957393464
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter) rs1957431273
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter) rs1406392019
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter) rs1957520697
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter) rs1957642707
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter) rs186644871
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter) rs1957842461
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter) rs530700420
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter) rs1957851234
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter) rs1952532000
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter) rs1555064033
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter) rs2135244869
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter) rs1952585733
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter) rs1952682554
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter) rs782747153
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
NM_206933.4(USH2A):c.956del (p.Cys319fs)
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)

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.