ClinVar Miner

List of variants in gene CASK reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1504-269A>G rs765674652 0.01040
NM_001367721.1(CASK):c.533-259C>T rs142589819 0.00672
NM_001367721.1(CASK):c.1503+37G>A rs181530379 0.00590
NM_001367721.1(CASK):c.1843-84C>G rs148958867 0.00586
NM_001367721.1(CASK):c.2318-47C>G rs150078824 0.00571
NM_001367721.1(CASK):c.1583-168G>A rs771680125 0.00487
NM_001367721.1(CASK):c.2155+267A>G rs140283330 0.00484
NM_001367721.1(CASK):c.1738-252A>C rs756635208 0.00480
NM_001367721.1(CASK):c.1843-179T>G rs143633060 0.00480
NM_001367721.1(CASK):c.2040-236G>A rs142870523 0.00480
NM_001367721.1(CASK):c.2604+71C>T rs139933620 0.00467
NM_001367721.1(CASK):c.2604+210C>T rs755946752 0.00464
NM_001367721.1(CASK):c.356+229G>T rs191769966 0.00349
NM_001367721.1(CASK):c.2521-162T>C rs770930590 0.00086
NM_001367721.1(CASK):c.831+29A>G rs150353415 0.00052
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001367721.1(CASK):c.356+6T>C rs200402760 0.00022
NM_001367721.1(CASK):c.430-18G>A rs372470833 0.00021
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.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.2521-11T>C rs774486148 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.2670C>T (p.Phe890=) rs773214246 0.00006
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) rs201435578 0.00005
NM_001367721.1(CASK):c.996C>T (p.Ser332=) rs768258764 0.00005
NM_001367721.1(CASK):c.-6C>T rs200206294 0.00004
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001367721.1(CASK):c.1005T>C (p.Pro335=) rs756316223 0.00003
NM_001367721.1(CASK):c.1302A>G (p.Gln434=) rs764629370 0.00002
NM_001367721.1(CASK):c.846C>T (p.Tyr282=) rs886128077 0.00002
NM_001367721.1(CASK):c.1368A>G (p.Ala456=) rs1602292289 0.00001
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1503+18G>C rs749424020 0.00001
NM_001367721.1(CASK):c.159G>T (p.Gly53=) rs761946846 0.00001
NM_001367721.1(CASK):c.279T>C (p.Phe93=) rs1556042440 0.00001
NM_001367721.1(CASK):c.1016-247dup rs970144546
NM_001367721.1(CASK):c.1504-252_1504-243del rs1176936000
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.172+277del rs751945206
NM_001367721.1(CASK):c.173-268dup rs778064917
NM_001367721.1(CASK):c.2156-40T>A rs41310661
NM_001367721.1(CASK):c.2318-11C>T rs2147086584
NM_001367721.1(CASK):c.2604+7A>C rs1602207587
NM_001367721.1(CASK):c.430-27_430-20del rs200962618
NM_001367721.1(CASK):c.532+114C>A rs149954887

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