ClinVar Miner

List of variants in gene CABP4 reported as uncertain significance for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_145200.5(CABP4):c.*1873C>T rs867214951 0.12553
NM_145200.5(CABP4):c.*1636A>G rs532435181 0.00479
NM_145200.5(CABP4):c.*2709G>A rs189502443 0.00380
NM_145200.5(CABP4):c.*2668G>A rs116414393 0.00171
NM_145200.5(CABP4):c.-27G>A rs192302421 0.00167
NM_145200.5(CABP4):c.*1117C>A rs565802060 0.00137
NM_145200.5(CABP4):c.*1190T>C rs7127024 0.00126
NM_145200.5(CABP4):c.*3043C>T rs571674945 0.00080
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) rs146764702 0.00073
NM_145200.5(CABP4):c.*683A>G rs146218513 0.00066
NM_145200.5(CABP4):c.*681A>G rs543961015 0.00053
NM_145200.5(CABP4):c.*702C>T rs574323434 0.00051
NM_145200.5(CABP4):c.522G>A (p.Ser174=) rs143344989 0.00051
NM_145200.5(CABP4):c.651+15G>A rs199749736 0.00049
NM_145200.5(CABP4):c.*1223G>A rs555941085 0.00044
NM_145200.5(CABP4):c.10G>C (p.Glu4Gln) rs143494300 0.00029
NM_145200.5(CABP4):c.309C>T (p.Ser103=) rs555315887 0.00028
NM_145200.5(CABP4):c.318C>T (p.Asp106=) rs375330570 0.00028
NM_145200.5(CABP4):c.*1158A>G rs539741322 0.00027
NM_145200.5(CABP4):c.*1040C>A rs186530202 0.00025
NM_145200.5(CABP4):c.214A>C (p.Asn72His) rs143788427 0.00024
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_145200.5(CABP4):c.*394T>A rs1047325440 0.00016
NM_145200.5(CABP4):c.605C>T (p.Thr202Met) rs150929930 0.00016
NM_145200.5(CABP4):c.*1413C>T rs563724143 0.00014
NM_145200.5(CABP4):c.*2004G>T rs570209950 0.00011
NM_145200.5(CABP4):c.*2836C>T rs145684543 0.00011
NM_145200.5(CABP4):c.*2860A>T rs148932555 0.00011
NM_145200.5(CABP4):c.*1390C>T rs564944745 0.00010
NM_145200.5(CABP4):c.256G>A (p.Ala86Thr) rs757725571 0.00009
NM_145200.5(CABP4):c.398-8C>T rs372275562 0.00009
NM_145200.5(CABP4):c.*2000A>G rs927120262 0.00008
NM_145200.5(CABP4):c.816C>T (p.Leu272=) rs371952355 0.00007
NM_145200.5(CABP4):c.478A>G (p.Thr160Ala) rs200254813 0.00005
NM_145200.5(CABP4):c.69G>A (p.Ala23=) rs775292545 0.00005
NM_145200.5(CABP4):c.*1510T>C rs1303691994 0.00004
NM_145200.5(CABP4):c.*1939A>G rs886048574 0.00003
NM_145200.5(CABP4):c.*2089T>C rs886048576 0.00003
NM_145200.5(CABP4):c.*2187G>C rs886048579 0.00003
NM_145200.5(CABP4):c.725C>T (p.Pro242Leu) rs758186712 0.00003
NM_145200.5(CABP4):c.*1063G>A rs191030743 0.00002
NM_145200.5(CABP4):c.*2098C>T rs886048577 0.00002
NM_145200.5(CABP4):c.*26C>T rs747352890 0.00002
NM_145200.5(CABP4):c.*2958T>C rs936395339 0.00002
NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) rs748865845 0.00002
NM_145200.5(CABP4):c.*1402G>A rs949888937 0.00001
NM_145200.5(CABP4):c.*1662G>A rs1257789507 0.00001
NM_145200.5(CABP4):c.*1827C>T rs886048566 0.00001
NM_145200.5(CABP4):c.*1957A>G rs1181533164 0.00001
NM_145200.5(CABP4):c.*2438G>A rs886048582 0.00001
NM_145200.5(CABP4):c.*2583C>T rs886048583 0.00001
NM_145200.5(CABP4):c.*295G>A rs181113902 0.00001
NM_145200.5(CABP4):c.*669T>C rs886048564 0.00001
NM_145200.5(CABP4):c.228T>G (p.Thr76=) rs1050306159 0.00001
NM_145200.5(CABP4):c.322G>A (p.Ala108Thr) rs199718669 0.00001
NM_145200.5(CABP4):c.367-8C>T rs200871690 0.00001
NM_145200.5(CABP4):c.397G>A (p.Glu133Lys) rs763497383 0.00001
NM_145200.5(CABP4):c.432C>T (p.Asp144=) rs766247910 0.00001
NM_145200.5(CABP4):c.541+14C>T rs886048561 0.00001
NM_145200.5(CABP4):c.*1758G>A rs545370587
NM_145200.5(CABP4):c.*1933C>A rs886048573
NM_145200.5(CABP4):c.*2061C>T rs1382811119
NM_145200.5(CABP4):c.*2065T>G rs886048575
NM_145200.5(CABP4):c.*2331A>G rs886048581
NM_145200.5(CABP4):c.*2357A>G rs1461232183
NM_145200.5(CABP4):c.*262C>G rs886048562
NM_145200.5(CABP4):c.*2886T>A rs1865015075
NM_145200.5(CABP4):c.*2896T>C rs1865015731
NM_145200.5(CABP4):c.*2905G>A rs1865015969
NM_145200.5(CABP4):c.*324C>A rs886048563
NM_145200.5(CABP4):c.*408C>T rs376738871
NM_145200.5(CABP4):c.*62A>T rs899658098
NM_145200.5(CABP4):c.194A>G (p.Glu65Gly) rs886048559
NM_145200.5(CABP4):c.234G>A (p.Glu78=)
NM_145200.5(CABP4):c.246C>A (p.Gly82=) rs147329388
NM_145200.5(CABP4):c.248C>T (p.Ala83Val)
NM_145200.5(CABP4):c.281G>A (p.Arg94His) rs143040005
NM_145200.5(CABP4):c.315C>T (p.His105=) rs756570102
NM_145200.5(CABP4):c.367-9C>G
NM_145200.5(CABP4):c.415G>A (p.Glu139Lys) rs769103245
NM_145200.5(CABP4):c.524A>G (p.Gln175Arg) rs886048560
NM_145200.5(CABP4):c.541+7_541+8delinsGC rs34039523
NM_145200.5(CABP4):c.608C>A (p.Ala203Glu)
NM_145200.5(CABP4):c.619G>C (p.Gly207Arg)
NM_145200.5(CABP4):c.619_633dup (p.Gly207_Leu211dup) rs2135182933
NM_145200.5(CABP4):c.674G>A (p.Arg225Gln) rs200848734
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) rs773516968
NM_145200.5(CABP4):c.799+7C>T rs370492431

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