ClinVar Miner

List of variants in gene USH1C reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2656-260A>G rs7108947 0.95611
NM_153676.4(USH1C):c.2547-183C>G rs1859824 0.94357
NM_153676.4(USH1C):c.1531-64C>A rs2237965 0.69980
NM_153676.4(USH1C):c.675-296A>G rs4756898 0.69544
NM_153676.4(USH1C):c.1211-1375A>G rs10766408 0.60626
NM_153676.4(USH1C):c.37-243A>G rs2883581 0.58574
NM_153676.4(USH1C):c.-183T>G rs1859819 0.57652
NM_153676.4(USH1C):c.1086-45A>G rs2041031 0.57266
NM_153676.4(USH1C):c.1086-42G>A rs2108332 0.57242
NM_153676.4(USH1C):c.1086-108A>G rs2041032 0.56388
NM_153676.4(USH1C):c.37-45C>G rs2240489 0.56124
NM_153676.4(USH1C):c.760-66T>C rs4757539 0.56102
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_153676.4(USH1C):c.2281-113A>G rs2072234 0.50335
NM_153676.4(USH1C):c.2547-159_2547-158del rs10530940 0.50141
NM_153676.4(USH1C):c.1530+121T>A rs733874 0.49505
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_153676.4(USH1C):c.1413+52C>T rs2190453 0.47939
NM_153676.4(USH1C):c.37-61A>G rs878546 0.45653
NM_153676.4(USH1C):c.*211A>G rs1055581 0.45185
NM_153676.4(USH1C):c.*46T>C rs1055574 0.44023
NM_153676.4(USH1C):c.2656-115G>A rs2072227 0.44015
NM_153676.4(USH1C):c.*186C>T rs1055577 0.43773
NM_153676.4(USH1C):c.1085+21C>G rs2240488 0.43168
NM_153676.4(USH1C):c.104+292G>T rs878547 0.42636
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
NM_153676.4(USH1C):c.36+214C>T rs7125811 0.39120
NM_153676.4(USH1C):c.2656-47C>T rs2072225 0.38117
NM_153676.4(USH1C):c.2491-165C>A rs2072230 0.36314
NM_153676.4(USH1C):c.2547-11T>C rs10832795 0.35821
NM_153676.4(USH1C):c.522-45del rs5789990 0.31188
NM_153676.4(USH1C):c.580-27G>A rs6486378 0.30297
NM_153676.4(USH1C):c.579+61G>A rs72870320 0.23593
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_153676.4(USH1C):c.759+272A>G rs79878474 0.17289
NM_153676.4(USH1C):c.1260+83C>G rs2237961 0.16872
NM_153676.4(USH1C):c.1414-34G>A rs2237964 0.16591
NM_153676.4(USH1C):c.1211-935G>A rs16770 0.16248
NC_000011.10:g.17544747T>C rs12272861 0.13981
NM_153676.4(USH1C):c.1211-211C>T rs2237960 0.12526
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_153676.4(USH1C):c.2656-106T>C rs2072226 0.10996
NM_153676.4(USH1C):c.2381-46G>A rs2072233 0.10738
NM_153676.4(USH1C):c.759+294C>T rs75165004 0.10641
NM_153676.4(USH1C):c.37-47G>T rs2355022 0.09867
NM_153676.4(USH1C):c.2226+197G>A rs12270644 0.09831
NM_153676.4(USH1C):c.521+56A>G rs41282940 0.09720
NM_153676.4(USH1C):c.1086-12G>A rs11024318 0.09048
NM_153676.4(USH1C):c.760-116G>A rs41282938 0.08700
NM_153676.4(USH1C):c.675-96C>T rs35539374 0.05539
NM_153676.4(USH1C):c.2226+12C>T rs17703528 0.05274
NM_153676.4(USH1C):c.1020-245C>G rs16934376 0.05145
NM_153676.4(USH1C):c.2134-12T>C rs76769358 0.04923
NM_153676.4(USH1C):c.1019+222C>G rs4757538 0.04795
NM_153676.4(USH1C):c.2656-159del rs113336938 0.04751
NC_000011.10:g.17544434G>A rs41274346 0.04577
NM_153676.4(USH1C):c.2184+254C>G rs7931529 0.04370
NM_153676.4(USH1C):c.2184+229C>T rs11024312 0.04288
NM_153676.4(USH1C):c.2655+264T>C rs59196307 0.03727
NM_153676.4(USH1C):c.1211-1418G>A rs12271449 0.03539
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_153676.4(USH1C):c.1019+227C>T rs72870313 0.03435
NM_153676.4(USH1C):c.580-145A>G rs115427218 0.02639
NM_153676.4(USH1C):c.580-148C>T rs116336355 0.02636
NM_153676.4(USH1C):c.675-191T>G rs79928978 0.02632
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_153676.4(USH1C):c.674+190A>G rs112551413 0.02576
NM_153676.4(USH1C):c.1210+158G>C rs57367368 0.02573
NM_153676.4(USH1C):c.675-258G>A rs191375575 0.02526
NM_153676.4(USH1C):c.675-260T>G rs530903680 0.02526
NM_153676.4(USH1C):c.2655+180C>A rs12284437 0.02469
NM_153676.4(USH1C):c.579+92C>T rs112888183 0.02419
NM_153676.4(USH1C):c.579+114G>A rs116184533 0.02415
NM_153676.4(USH1C):c.579+116T>C rs115678883 0.02415
NM_153676.4(USH1C):c.1211-1249C>T rs116225056 0.02335
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942 0.02272
NM_153676.4(USH1C):c.2280+29C>T rs114971046 0.02272
NM_153676.4(USH1C):c.759+144A>G rs143040620 0.01864
NM_153676.4(USH1C):c.876+33G>A rs114884519 0.01764
NM_153676.4(USH1C):c.-60T>C rs371444878 0.01736
NM_153676.4(USH1C):c.1872G>A (p.Ser624=) rs80124409 0.01688
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_153676.4(USH1C):c.2227-118T>G rs111458343 0.01506
NM_153676.4(USH1C):c.2014-305G>C rs61570226 0.01491
NM_153676.4(USH1C):c.1085+173G>A rs57959744 0.01416
NM_153676.4(USH1C):c.1530+273C>G rs7931241 0.01412
NM_153676.4(USH1C):c.2184+21T>G rs75810555 0.01371
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser) rs34077456 0.01319
NM_153676.4(USH1C):c.759+116G>A rs78163509 0.01248
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.1019+173G>A rs149654396 0.01104
NM_153676.4(USH1C):c.1211-1256G>C rs115059650 0.01010
NM_153676.4(USH1C):c.1260+282G>A rs61735264 0.01006
NM_153676.4(USH1C):c.387+17C>T rs78718533 0.00969
NM_153676.4(USH1C):c.820-59C>T rs148317033 0.00812
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_153676.4(USH1C):c.1019+52G>A rs147022226 0.00739
NM_153676.4(USH1C):c.2547-8A>G rs78509055 0.00720
NM_153676.4(USH1C):c.2184+47G>A rs11827813 0.00716
NM_153676.4(USH1C):c.2490+174G>A rs78299106 0.00680
NM_153676.4(USH1C):c.388-312G>T rs58293804 0.00674
NC_000011.10:g.17544758T>C rs530224042 0.00611
NM_153676.4(USH1C):c.105-148C>T rs147136961 0.00595
NM_153676.4(USH1C):c.674+155G>T rs145908619 0.00591
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
NM_153676.4(USH1C):c.*42C>T rs16934270 0.00520
NM_153676.4(USH1C):c.388-255C>T rs75116675 0.00516
NM_153676.4(USH1C):c.37-150C>A rs113289329 0.00487
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) rs142751309 0.00442
NM_153676.4(USH1C):c.496+66G>T rs45552041 0.00406
NM_153676.4(USH1C):c.1019+51C>T rs78724677 0.00395
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_153676.4(USH1C):c.759+20C>T rs200769484 0.00315
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_153676.4(USH1C):c.1020-42C>T rs146119431 0.00239
NM_153676.4(USH1C):c.2491-41C>T rs200004245 0.00236
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_153676.4(USH1C):c.1085+26C>T rs188049377 0.00194
NM_153676.4(USH1C):c.820-51G>A rs189575414 0.00190
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_153676.4(USH1C):c.37-48G>T rs375816874 0.00172
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_153676.4(USH1C):c.37-41T>G rs566278729 0.00117
NM_153676.4(USH1C):c.2184+12C>T rs138547759 0.00112
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_153676.4(USH1C):c.522-44G>A rs545929961 0.00081
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_153676.4(USH1C):c.1632C>T (p.Asp544=) rs142545736 0.00074
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00064
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_153676.4(USH1C):c.580-43C>T rs113862877 0.00061
NM_153676.4(USH1C):c.2185-34C>T rs202025942 0.00048
NM_153676.4(USH1C):c.2134-11T>C rs200386499 0.00047
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489 0.00029
NM_153676.4(USH1C):c.820-26G>A rs185115478 0.00023
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln) rs187147906 0.00022
NM_153676.4(USH1C):c.1386G>A (p.Gln462=) rs141564204 0.00021
NM_153676.4(USH1C):c.1449G>A (p.Ser483=) rs142669563 0.00019
NM_153676.4(USH1C):c.1458T>C (p.Ile486=) rs147743437 0.00019
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) rs138123405 0.00019
NM_153676.4(USH1C):c.2616C>T (p.Ala872=) rs141591891 0.00019
NM_153676.4(USH1C):c.1591C>T (p.Arg531Cys) rs140528164 0.00018
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) rs143803480 0.00016
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059 0.00014
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005 0.00014
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.579+31G>C rs143734210 0.00010
NM_153676.4(USH1C):c.820-9T>C rs370623882 0.00010
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile) rs201308481 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_153676.4(USH1C):c.105-4A>G rs201374986 0.00008
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573 0.00008
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855 0.00007
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln) rs895318911 0.00006
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.-31G>T rs374794188 0.00005
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr) rs369255684 0.00004
NM_153676.4(USH1C):c.1793G>A (p.Arg598His) rs767863235 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.1994G>A (p.Ser665Asn) rs150854703 0.00003
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.2547-46G>A rs754728458 0.00003
NM_153676.4(USH1C):c.1260+7C>T rs978889964 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg) rs1387867750 0.00002
NM_153676.4(USH1C):c.*1G>C rs553257705 0.00001
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter) rs1278026061 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) rs1157049229 0.00001
NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg) rs1554955501 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153676.4(USH1C):c.375del (p.Ser125fs) rs756032457 0.00001
NM_153676.4(USH1C):c.521+14C>G rs1235631667 0.00001
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246 0.00001
NC_000011.10:g.17544513C>G rs139790247
NC_000011.10:g.17544700_17544703del rs150190506
NC_000011.10:g.17544756_17544758dup rs67346792
NC_000011.10:g.17544757_17544758dup rs67346792
NC_000011.10:g.17544758dup rs67346792
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala) rs143923730
NM_153676.4(USH1C):c.104+295T>A rs142593423
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1260+3A>G
NM_153676.4(USH1C):c.1261-34C>T rs2190454
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.142C>G (p.Leu48Val)
NM_153676.4(USH1C):c.1471G>A (p.Glu491Lys)
NM_153676.4(USH1C):c.1519G>A (p.Glu507Lys) rs962425019
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr) rs727503711
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1824G>C (p.Pro608=) rs201101932
NM_153676.4(USH1C):c.1831G>A (p.Val611Ile)
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe) rs560416690
NM_153676.4(USH1C):c.2122T>C (p.Ser708Pro)
NM_153676.4(USH1C):c.2134-22dup rs397848183
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2280+23G>A rs370092421
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn) rs775036726
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2443C>A (p.Leu815Met) rs148477093
NM_153676.4(USH1C):c.2546+125A>G rs2072229
NM_153676.4(USH1C):c.2655+33T>A rs180973453
NM_153676.4(USH1C):c.2696G>A (p.Arg899His)
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr) rs767655370
NM_153676.4(USH1C):c.36+1G>A rs1403777293
NM_153676.4(USH1C):c.37-168G>A rs77999105
NM_153676.4(USH1C):c.37-44G>T rs539980644
NM_153676.4(USH1C):c.37-44_37-42dup rs5789992
NM_153676.4(USH1C):c.37-44_37-43dup rs5789992
NM_153676.4(USH1C):c.37-44dup rs5789992
NM_153676.4(USH1C):c.37-49_37-48insC rs374928611
NM_153676.4(USH1C):c.37-49_37-48insTT rs374928611
NM_153676.4(USH1C):c.376G>A (p.Val126Ile) rs1280648795
NM_153676.4(USH1C):c.436A>G (p.Thr146Ala)
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.496+33= rs12795083
NM_153676.4(USH1C):c.580-27G>T rs6486378
NM_153676.4(USH1C):c.675-133G>A rs114117710
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.759+79G>A rs190764916
NM_153676.4(USH1C):c.818A>T (p.Glu273Val) rs2133880564
NM_153676.4(USH1C):c.830T>G (p.Val277Gly)
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp) rs574790229

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