ClinVar Miner

List of variants in gene USH1G reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757 0.00182
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) rs147967199 0.00102
NM_173477.5(USH1G):c.705G>A (p.Glu235=) rs149002004 0.00080
NM_173477.5(USH1G):c.756C>T (p.Asp252=) rs146752863 0.00017
NM_173477.5(USH1G):c.510C>G (p.Ala170=) rs374630813 0.00006
NM_173477.5(USH1G):c.972T>C (p.Ser324=) rs773660538 0.00004
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124 0.00002
NM_173477.5(USH1G):c.678C>A (p.Gly226=) rs201525855 0.00002
NM_173477.5(USH1G):c.594C>T (p.His198=) rs727503713
NM_173477.5(USH1G):c.84C>T (p.Pro28=) rs397517929

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