ClinVar Miner

List of variants in gene USH1G reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_173477.5(USH1G):c.*371= rs1288389465 0.99999
NM_173477.5(USH1G):c.*1900G>C rs1568448 0.36197
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466 0.03715
NM_173477.5(USH1G):c.*63C>T rs113765180 0.02386
NM_173477.5(USH1G):c.*1112C>T rs114353953 0.01972
NM_173477.5(USH1G):c.*940C>G rs112293979 0.00971

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