ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
DFNB31, IVS2DS, G-A, +1
NG_007083.1:g.371658_507674del
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_007123.5(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_007123.5(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) rs137852840
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
NM_015404.4(WHRN):c.737del (p.Pro246fs)
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys) rs121909763
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer) rs796051865
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) rs796051866
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs) rs796051867
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs) rs796051863
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs) rs796051864
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599

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