ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP
NC_000001.11:g.215671036T>C
NC_000001.11:g.215671223G>C
NC_000001.11:g.215674481T>C
NC_000001.11:g.215674772G>A
NC_000001.11:g.215675014C>A
NC_000001.11:g.215741490C>G
NC_000001.11:g.215799051G>A
NC_000001.11:g.215845832C>T
NC_000001.11:g.215889016T>C
NC_000001.11:g.215900819C>T
NC_000001.11:g.215993101C>T
NC_000001.11:g.216078157G>A
NC_000001.11:g.216175321T>A
NC_000001.11:g.216175443T>A
NC_000001.11:g.216196635G>C
NC_000001.11:g.216199854C>G
NM_206933.3(USH2A):c.-1C>G rs547139318
NM_206933.3(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.3(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.3(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.3(USH2A):c.10387+5C>G rs746536041
NM_206933.3(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.3(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216
NM_206933.3(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057
NM_206933.3(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.3(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.3(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307
NM_206933.3(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166
NM_206933.3(USH2A):c.10933G>A (p.Val3645Ile) rs397517970
NM_206933.3(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971
NM_206933.3(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371
NM_206933.3(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395
NM_206933.3(USH2A):c.11414T>C (p.Val3805Ala) rs760024584
NM_206933.3(USH2A):c.11500T>A (p.Leu3834Met) rs1553257690
NM_206933.3(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.3(USH2A):c.11687_11689TCA[2] (p.Ile3898del) rs727504714
NM_206933.3(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.3(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606
NM_206933.3(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202
NM_206933.3(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950
NM_206933.3(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322
NM_206933.3(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.3(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.3(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945
NM_206933.3(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718
NM_206933.3(USH2A):c.12362G>A (p.Arg4121His) rs397517980
NM_206933.3(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290
NM_206933.3(USH2A):c.12633T>G (p.Ile4211Met) rs727503716
NM_206933.3(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
NM_206933.3(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.3(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.3(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.3(USH2A):c.12883A>G (p.Ile4295Val) rs137868043
NM_206933.3(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.3(USH2A):c.13202G>T (p.Gly4401Val) rs763576540
NM_206933.3(USH2A):c.13238C>G (p.Pro4413Arg) rs1553252404
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805
NM_206933.3(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.3(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682
NM_206933.3(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752
NM_206933.3(USH2A):c.14254G>A (p.Val4752Met) rs770161970
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.1448C>T (p.Thr483Met) rs201847741
NM_206933.3(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.3(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390
NM_206933.3(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423
NM_206933.3(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996
NM_206933.3(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.3(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714
NM_206933.3(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.3(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402
NM_206933.3(USH2A):c.15496A>G (p.Ile5166Val) rs111033419
NM_206933.3(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.3(USH2A):c.1556A>G (p.Gln519Arg) rs199672621
NM_206933.3(USH2A):c.1582G>A (p.Asp528Asn) rs551424240
NM_206933.3(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209
NM_206933.3(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.3(USH2A):c.1799G>C (p.Gly600Ala) rs772955674
NM_206933.3(USH2A):c.1816G>C (p.Asp606His) rs111033410
NM_206933.3(USH2A):c.182C>A (p.Pro61Gln) rs938662688
NM_206933.3(USH2A):c.1877G>A (p.Arg626Gln) rs192524347
NM_206933.3(USH2A):c.1934C>T (p.Thr645Ile) rs397518004
NM_206933.3(USH2A):c.1954A>G (p.Ser652Gly) rs397518005
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.2167+4C>T rs200638562
NM_206933.3(USH2A):c.2228G>T (p.Gly743Val) rs727504638
NM_206933.3(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216
NM_206933.3(USH2A):c.2479A>C (p.Asn827His) rs876658114
NM_206933.3(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.3(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.3(USH2A):c.2989G>A (p.Gly997Arg) rs397518009
NM_206933.3(USH2A):c.3043C>T (p.His1015Tyr) rs142302070
NM_206933.3(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.3(USH2A):c.3139C>G (p.Leu1047Val) rs727503735
NM_206933.3(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.3(USH2A):c.3241A>G (p.Asn1081Asp) rs1553315006
NM_206933.3(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685
NM_206933.3(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
NM_206933.3(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.3(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801
NM_206933.3(USH2A):c.4030A>G (p.Met1344Val) rs727503732
NM_206933.3(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.3(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.3(USH2A):c.4559T>A (p.Ile1520Asn) rs727503730
NM_206933.3(USH2A):c.4646G>A (p.Arg1549Gln) rs190170807
NM_206933.3(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.3(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.3(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_206933.3(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024
NM_206933.3(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.3(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724
NM_206933.3(USH2A):c.652-9T>G rs1231791432
NM_206933.3(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302
NM_206933.3(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117
NM_206933.3(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.3(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.3(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027
NM_206933.3(USH2A):c.6805+6T>A rs746355792
NM_206933.3(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.3(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.3(USH2A):c.7039G>A (p.Val2347Met) rs727503721
NM_206933.3(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.3(USH2A):c.7303C>A (p.Pro2435Thr) rs727503720
NM_206933.3(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.3(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115
NM_206933.3(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.3(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.3(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034
NM_206933.3(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389
NM_206933.3(USH2A):c.8200G>A (p.Val2734Met) rs397518035
NM_206933.3(USH2A):c.821G>A (p.Arg274Gln) rs727504721
NM_206933.3(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037
NM_206933.3(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.3(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.3(USH2A):c.8576G>A (p.Arg2859His) rs778272177
NM_206933.3(USH2A):c.8600C>T (p.Ser2867Leu) rs145468090
NM_206933.3(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390
NM_206933.3(USH2A):c.9071T>A (p.Leu3024His) rs111033456
NM_206933.3(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116
NM_206933.3(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044
NM_206933.3(USH2A):c.938C>A (p.Pro313His) rs397518047
NM_206933.3(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144
NM_206933.3(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.3(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136
NM_206933.3(USH2A):c.9956C>T (p.Pro3319Leu) rs761386458
NM_206933.3(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050

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