ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome

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ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_022124.6(CDH23):c.2587+35C>T rs186492861 0.00026
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) rs147267500 0.00005
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_000260.4(MYO7A):c.2905-1G>A rs1171417339 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu) rs377581131 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.9749-2del rs1751549898 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) rs1380661508 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.7300+1G>C rs1343780391 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) rs748465849 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
NC_000010.10:g.(73454017_73455174)_73468962del
NC_000010.11:g.(?_71645831)_(71646617_?)del
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) rs1555051390
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) rs1555078942
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3504-1G>A
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) rs2135577456
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.475-2204_594+1766del
NM_001384140.1(PCDH15):c.705+5G>A
NM_015404.4(WHRN):c.375del (p.Ala126fs) rs751838091
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) rs377358096
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.5067+1G>A
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.8064+1G>A rs1474524543
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9278+2T>A
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) rs1758488956
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.16196+1G>T rs1326895760
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) rs1764301206
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
NM_032119.4(ADGRV1):c.2898+2T>C
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs) rs1554081619
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu) rs552701854
NM_153676.4(USH1C):c.104+2T>C
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_173477.5(USH1G):c.1382+2_1382+3del
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter) rs1226851798
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) rs544952984
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val) rs765085056
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) rs1403618793
NM_206933.4(USH2A):c.10183-1375_10387+1389del
NM_206933.4(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
NM_206933.4(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs) rs2102661317
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) rs2102636006
NM_206933.4(USH2A):c.14969-2A>G rs2102634730
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.1888del (p.Ala630fs) rs2102606427
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) rs762167370
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.698del (p.Asp233fs)
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) rs1667314337
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
NM_206933.4(USH2A):c.7862del (p.Pro2621fs) rs2102460381
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) rs2037760521
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) rs1662880811
Single allele

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