ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_206933.4(USH2A):c.4627+641G>A rs146153666 0.00523
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.4627+48A>T rs74874838

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