ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by Blueprint Genetics

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP
NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017
NM_206933.3(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578
NM_206933.3(USH2A):c.13071A>C (p.Ser4357=) rs568141672
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139
NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.4016T>G (p.Val1339Gly) rs781668118
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651
NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.3(USH2A):c.5608C>T (p.Arg1870Trp) rs144768593
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6801G>A (p.Pro2267=) rs375235470
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.3(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430
NM_206933.3(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235
NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.3(USH2A):c.997T>C (p.Ser333Pro) rs368986242
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly)
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
NM_206933.4(USH2A):c.1038_1091dup (p.Gln364_Leu365insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr)
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr)
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg)
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val)
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser)
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser)
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=)
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=)
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del)
NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro)
NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys)
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=)
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe)
NM_206933.4(USH2A):c.1644+5G>C
NM_206933.4(USH2A):c.1674C>T (p.Asp558=)
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr)
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) rs1553320519
NM_206933.4(USH2A):c.263G>T (p.Cys88Phe)
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp)
NM_206933.4(USH2A):c.2993+3A>T
NM_206933.4(USH2A):c.299T>A (p.Leu100His)
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe)
NM_206933.4(USH2A):c.3157+5G>A
NM_206933.4(USH2A):c.3316+5G>C
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser)
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val)
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser)
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr)
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val)
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly)
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
NM_206933.4(USH2A):c.6715G>C (p.Asp2239His)
NM_206933.4(USH2A):c.6806-3C>T
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro)
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del)
NM_206933.4(USH2A):c.785-3C>G
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu)
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His)
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177
NM_206933.4(USH2A):c.8682-16C>G
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser)
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del)
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys)
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)

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