ClinVar Miner

List of variants in gene UNC119 studied for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_005148.4(UNC119):c.*1C>T rs2070139 0.12907
NM_005148.4(UNC119):c.*72C>T rs1802094 0.02861
NM_005148.4(UNC119):c.*362C>G rs73278545 0.00312
NM_005148.4(UNC119):c.220+15G>C rs200265148 0.00198
NM_005148.4(UNC119):c.267C>G (p.Val89=) rs145710399 0.00084
NM_005148.4(UNC119):c.502C>T (p.Arg168Cys) rs146916036 0.00053
NM_005148.4(UNC119):c.*140A>G rs568283544 0.00041
NM_005148.4(UNC119):c.*226C>T rs80000715 0.00039
NM_005148.4(UNC119):c.663C>T (p.Phe221=) rs139354163 0.00038
NM_005148.4(UNC119):c.*83G>C rs566810319 0.00022
NM_005148.4(UNC119):c.*287T>G rs746762474 0.00018
NM_005148.4(UNC119):c.234C>T (p.Ser78=) rs147732652 0.00018
NM_005148.4(UNC119):c.437+7C>T rs200659406 0.00012
NM_005148.4(UNC119):c.626G>A (p.Arg209His) rs375147970 0.00010
NM_005148.4(UNC119):c.*265G>A rs886052764 0.00008
NM_005148.4(UNC119):c.*378G>A rs1005163473 0.00008
NM_005148.4(UNC119):c.321G>A (p.Lys107=) rs543041170 0.00006
NM_005148.4(UNC119):c.*7G>A rs370209476 0.00004
NM_005148.4(UNC119):c.281G>A (p.Arg94Gln) rs763481567 0.00003
NM_005148.4(UNC119):c.356G>A (p.Arg119Gln) rs200211619 0.00003
NM_005148.4(UNC119):c.526G>A (p.Asp176Asn) rs772710984 0.00002
NM_005148.4(UNC119):c.419T>G (p.Leu140Arg) rs199705690 0.00001
NM_005148.4(UNC119):c.*115G>A rs1040198223
NM_005148.4(UNC119):c.*181G>A rs898936208
NM_005148.4(UNC119):c.*385T>C rs541479092
NM_005148.4(UNC119):c.*78C>T rs558661546
NM_005148.4(UNC119):c.262T>C (p.Phe88Leu) rs886052765
NM_005148.4(UNC119):c.509A>G (p.Gln170Arg) rs561712812
NM_005148.4(UNC119):c.586T>C (p.Phe196Leu) rs145972313
NM_005148.4(UNC119):c.601G>T (p.Glu201Ter) rs764936506
NM_005148.4(UNC119):c.689A>G (p.Asn230Ser) rs2070217294
NM_005148.4(UNC119):c.721T>C (p.Ter241Arg)

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