ClinVar Miner

List of variants in gene WHRN studied for Usher syndrome type 2

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP
DFNB31, IVS2DS, G-A, +1
NM_015404.4(WHRN):c.*126C>A
NM_015404.4(WHRN):c.*149A>G rs563858014
NM_015404.4(WHRN):c.*156G>A rs567661962
NM_015404.4(WHRN):c.*175C>T
NM_015404.4(WHRN):c.*187A>G rs779279060
NM_015404.4(WHRN):c.*188A>T rs549537695
NM_015404.4(WHRN):c.*339C>A
NM_015404.4(WHRN):c.*357C>G rs886063368
NM_015404.4(WHRN):c.*438T>G
NM_015404.4(WHRN):c.*495T>C
NM_015404.4(WHRN):c.*554C>T rs886063367
NM_015404.4(WHRN):c.*583C>T
NM_015404.4(WHRN):c.*613A>G
NM_015404.4(WHRN):c.*633T>C rs886063366
NM_015404.4(WHRN):c.-204C>G
NM_015404.4(WHRN):c.-23C>G rs770413185
NM_015404.4(WHRN):c.-257C>G rs73555447
NM_015404.4(WHRN):c.-269C>A rs551952938
NM_015404.4(WHRN):c.-295C>G rs7861589
NM_015404.4(WHRN):c.-305C>T
NM_015404.4(WHRN):c.-310G>T
NM_015404.4(WHRN):c.-314C>T
NM_015404.4(WHRN):c.-391C>A rs4527950
NM_015404.4(WHRN):c.-483G>A rs886063374
NM_015404.4(WHRN):c.-499G>A rs886063375
NM_015404.4(WHRN):c.-505C>T
NM_015404.4(WHRN):c.-510G>A rs10759714
NM_015404.4(WHRN):c.-517C>T rs886063376
NM_015404.4(WHRN):c.-570C>G
NM_015404.4(WHRN):c.-581C>T rs886063377
NM_015404.4(WHRN):c.-583C>T rs755158483
NM_015404.4(WHRN):c.-595G>A
NM_015404.4(WHRN):c.-91C>T rs2297814
NM_015404.4(WHRN):c.-92C>T
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) rs886063373
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) rs763451514
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) rs886063372
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400
NM_015404.4(WHRN):c.1389G>T (p.Leu463=)
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199
NM_015404.4(WHRN):c.1555A>G (p.Met519Val)
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135
NM_015404.4(WHRN):c.1626+8T>G rs547616329
NM_015404.4(WHRN):c.1627-12G>A rs2274160
NM_015404.4(WHRN):c.1627-5T>A rs187221008
NM_015404.4(WHRN):c.1627-7T>G
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) rs886063371
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.4(WHRN):c.1929G>A (p.Gln643=)
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) rs781674400
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) rs376805417
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
NM_015404.4(WHRN):c.2237-10C>G rs200131193
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) rs751455932
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158
NM_015404.4(WHRN):c.2419-5C>T
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) rs137852840
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185
NM_015404.4(WHRN):c.680G>T (p.Gly227Val)
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
NM_015404.4(WHRN):c.684C>T (p.Tyr228=)
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096
NM_015404.4(WHRN):c.695A>C (p.His232Pro)
NM_015404.4(WHRN):c.737del (p.Pro246fs)
NM_015404.4(WHRN):c.762C>T (p.His254=)
NM_015404.4(WHRN):c.837+5G>C rs201863779
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe)

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