ClinVar Miner

List of variants in gene combination GIGYF2, KCNJ13 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_002242.4(KCNJ13):c.*102T>G rs886055795
NM_002242.4(KCNJ13):c.*1088T>C rs768069588
NM_002242.4(KCNJ13):c.*1201C>T rs116740510
NM_002242.4(KCNJ13):c.*121A>G rs147795007
NM_002242.4(KCNJ13):c.*1482_*1484del rs774385692
NM_002242.4(KCNJ13):c.*1500G>A rs543305193
NM_002242.4(KCNJ13):c.*1742dup rs746052279
NM_002242.4(KCNJ13):c.*1758T>A rs886055792
NM_002242.4(KCNJ13):c.*179_*180CT[1] rs758195599
NM_002242.4(KCNJ13):c.*1804G>A rs886055791
NM_002242.4(KCNJ13):c.*1867T>C rs144253492
NM_002242.4(KCNJ13):c.*1881T>A rs369335960
NM_002242.4(KCNJ13):c.*2324C>T rs74547374
NM_002242.4(KCNJ13):c.*256G>A rs568320995
NM_002242.4(KCNJ13):c.*290T>C rs191388517
NM_002242.4(KCNJ13):c.*342A>G rs886055794
NM_002242.4(KCNJ13):c.*371T>C rs539079150
NM_002242.4(KCNJ13):c.*619C>T rs114432797
NM_002242.4(KCNJ13):c.*692T>C rs150909352
NM_002242.4(KCNJ13):c.*761C>T rs41265971
NM_002242.4(KCNJ13):c.*94A>C rs570138880
NM_002242.4(KCNJ13):c.*957A>G rs886055793
NM_002242.4(KCNJ13):c.-110A>T rs374864322
NM_002242.4(KCNJ13):c.-73T>C rs886055798
NM_002242.4(KCNJ13):c.-74C>T rs755592443
NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) rs769501717
NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) rs886055797
NM_002242.4(KCNJ13):c.621A>G (p.Val207=) rs886055796
NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) rs146797648

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