ClinVar Miner

Variants in gene CASK with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 31
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001367721.1(CASK):c.1234-22G>A rs5963260 0.02684
NM_001367721.1(CASK):c.1234-30G>A rs5964019 0.02683
NM_001367721.1(CASK):c.2040-9A>G rs138290714 0.00595
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107 0.00072
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001367721.1(CASK):c.600A>G (p.Val200=) rs147738759 0.00024
NM_001367721.1(CASK):c.430-18G>A rs372470833 0.00021
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) rs139731261 0.00020
NM_001367721.1(CASK):c.2040-17C>A rs375693462 0.00020
NM_001367721.1(CASK):c.2409C>T (p.Asn803=) rs375034853 0.00017
NM_001367721.1(CASK):c.1392C>T (p.Thr464=) rs368007414 0.00015
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) rs199730401 0.00013
NM_001367721.1(CASK):c.432C>T (p.Pro144=) rs761142771 0.00012
NM_001367721.1(CASK):c.2433C>T (p.His811=) rs371990384 0.00011
NM_001367721.1(CASK):c.2175T>C (p.Leu725=) rs757563548 0.00009
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001367721.1(CASK):c.1332C>T (p.His444=) rs753172505 0.00007
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001367721.1(CASK):c.1503+15A>G rs371792840 0.00006
NM_001367721.1(CASK):c.195C>T (p.Ile65=) rs769320891 0.00005
NM_001367721.1(CASK):c.1668+10T>C rs751395675 0.00003
NM_001367721.1(CASK):c.1669-9C>A rs562152407 0.00003
NM_001367721.1(CASK):c.1686T>C (p.Ser562=) rs758121698 0.00003
NM_001367721.1(CASK):c.2508C>T (p.Asp836=) rs375734729 0.00003
NM_001367721.1(CASK):c.1504-6del rs749321162
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.430-27_430-20del rs200962618

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