ClinVar Miner

List of variants in gene combination LOC122152296, USH2A reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_206933.4(USH2A):c.2460T>C (p.Asn820=) rs781373128 0.00015
NM_206933.4(USH2A):c.2628T>A (p.Gly876=) rs768522338 0.00004
NM_206933.4(USH2A):c.2643G>A (p.Gln881=) rs1286317611 0.00001
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611

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