ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by Myriad Genetics, Inc.

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Total variants: 72
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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 0.00013
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 0.00001
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs) rs2527440026
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter) rs2464394481
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter) rs2464394078
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter) rs769795486
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter) rs2465090971
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter) rs2465067641
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs) rs2527436614
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter) rs2037681648
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter) rs2464897719
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter) rs1220617136
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter) rs2464896029
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter) rs774714334
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter) rs2464895063
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter) rs2464894203
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs) rs2527434136
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs) rs2527434028
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs) rs2527434001
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter) rs2464811892
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs) rs2527433665
NM_206933.4(USH2A):c.1659del (p.Leu553fs) rs2528257059
NM_206933.4(USH2A):c.1994del (p.Lys665fs) rs2528172067
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter) rs2528163570
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter) rs2528163373
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter) rs2528163140
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs) rs2528162873
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs) rs2528162842
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter) rs2102545764
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs) rs2528162648
NM_206933.4(USH2A):c.2525del (p.Phe842fs) rs1403136669
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter) rs2528161607
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs) rs2102545092
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs) rs2528126907
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs) rs2528126766
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs) rs2528126437
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs) rs2528087541
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs) rs2528087518
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs) rs2528087514
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter) rs2528047332
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs) rs2528046714
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs) rs2528046555
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter) rs2528046090
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs) rs2528045805
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter) rs2528045056
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs) rs2528041806
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter) rs2528041334
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs) rs2528035466
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter) rs2527835936
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter) rs2527776733
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter) rs2527770006
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter) rs2527725818
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter) rs2527531653
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter) rs1226437991
NM_206933.4(USH2A):c.734_735del (p.Ser245fs) rs2527531361
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter) rs1458430039
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter) rs2464747975
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter) rs2102452018
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter) rs2464717567
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter) rs2464713058
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter) rs2464612427
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter) rs2464610781
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter) rs2464521290
NM_206933.4(USH2A):c.956del (p.Cys319fs) rs2527440288
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter) rs2464509726
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs) rs2527440081

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