ClinVar Miner

List of variants studied for Usher syndrome type 2A by Myriad Genetics, Inc.

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Total variants: 96
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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.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
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.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
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)

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