ClinVar Miner

List of variants reported as benign for Exudative vitreoretinopathy 5

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_012338.4(TSPAN12):c.*39C>T rs41622 0.76971
NM_012338.4(TSPAN12):c.361-34C>T rs7805733 0.76668
NM_012338.4(TSPAN12):c.765G>T (p.Pro255=) rs41623 0.76026
NM_012338.4(TSPAN12):c.360+9A>G rs116938497 0.00772
NM_012338.4(TSPAN12):c.*1270T>G rs147549883 0.00424
NM_012338.4(TSPAN12):c.*1139A>T rs192303288 0.00150
NM_012338.4(TSPAN12):c.*334A>T rs545129654 0.00128
NM_012338.4(TSPAN12):c.367G>C (p.Val123Leu) rs145676655 0.00079
NM_012338.4(TSPAN12):c.*998G>A rs182626886 0.00069
NM_012338.4(TSPAN12):c.-43G>A rs377745738 0.00019
NM_012338.4(TSPAN12):c.*1243A>T rs189221112 0.00007
NM_012338.4(TSPAN12):c.484G>A (p.Val162Ile) rs774728139 0.00002
NM_012338.4(TSPAN12):c.-127G>T rs541379054 0.00001
NM_012338.4(TSPAN12):c.-277C>T rs549451459

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