ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_032119.4(ADGRV1):c.-67A>T rs150816712 0.00511
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln) rs149390094 0.00330
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902 0.00083
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) rs200111522 0.00075
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234 0.00047
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) rs75019370 0.00036
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_015404.4(WHRN):c.*37C>G rs549195233 0.00001
NM_015404.4(WHRN):c.*51C>T rs529176890 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834

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