ClinVar Miner

List of variants in gene CASK reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
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.2297G>A (p.Arg766Gln) rs137964936 0.00053
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.1718C>T (p.Thr573Ile) rs141840001 0.00008
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.1090A>G (p.Ser364Gly) rs759161435 0.00005
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_001367721.1(CASK):c.974C>A (p.Pro325His) rs760139497 0.00005
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) rs138646715 0.00003
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945 0.00002
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) rs1421702106 0.00002
NM_001367721.1(CASK):c.1805C>T (p.Ser602Leu) rs868537608 0.00002
NM_001367721.1(CASK):c.2743A>G (p.Thr915Ala) rs775963628 0.00002
NM_001367721.1(CASK):c.1088G>A (p.Cys363Tyr) rs771782394 0.00001
NM_001367721.1(CASK):c.1098G>T (p.Lys366Asn) rs1205947875 0.00001
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.159G>T (p.Gly53=) rs761946846 0.00001
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser) rs900079494 0.00001
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val) rs1168108458 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001367721.1(CASK):c.2375C>T (p.Ser792Phe) rs2064797874 0.00001
NM_001367721.1(CASK):c.2390T>C (p.Met797Thr) rs771473384 0.00001
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys) rs751235198 0.00001
NM_001367721.1(CASK):c.2489G>A (p.Gly830Glu) rs774433205 0.00001
NM_001367721.1(CASK):c.2501T>C (p.Ile834Thr) rs1372580366 0.00001
NM_001367721.1(CASK):c.2509G>A (p.Val837Met) rs768962946 0.00001
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe) rs777220099 0.00001
NM_001367721.1(CASK):c.2737G>A (p.Val913Met) rs374765049 0.00001
NM_001367721.1(CASK):c.524T>C (p.Val175Ala) rs781247892 0.00001
NM_001367721.1(CASK):c.656T>C (p.Phe219Ser) rs1189980578 0.00001
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys) rs1361659361 0.00001
GRCh37/hg19 Xp11.4(chrX:41335354-41519376)x3
GRCh37/hg19 Xp11.4(chrX:41439326-41538706)x3
GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1
GRCh37/hg19 Xp11.4(chrX:41760334-42078539)x3
NM_001367721.1(CASK):c.*1317G>A
NM_001367721.1(CASK):c.1006A>G (p.Thr336Ala)
NM_001367721.1(CASK):c.1036G>A (p.Ala346Thr) rs2147279563
NM_001367721.1(CASK):c.1094A>G (p.Glu365Gly) rs2147279282
NM_001367721.1(CASK):c.1159T>C (p.Tyr387His)
NM_001367721.1(CASK):c.1168A>C (p.Ile390Leu) rs2147231422
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.1238T>C (p.Leu413Ser) rs2147224451
NM_001367721.1(CASK):c.1270G>A (p.Asp424Asn)
NM_001367721.1(CASK):c.1273G>A (p.Ala425Thr) rs1064796207
NM_001367721.1(CASK):c.1314+5_1314+8del rs772325722
NM_001367721.1(CASK):c.1333G>A (p.Asp445Asn) rs2065516822
NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser) rs1021774904
NM_001367721.1(CASK):c.1439T>A (p.Met480Lys) rs2147201151
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.1504-5A>G
NM_001367721.1(CASK):c.1504G>A (p.Gly502Arg) rs2147179382
NM_001367721.1(CASK):c.1521G>T (p.Met507Ile) rs1064794341
NM_001367721.1(CASK):c.1582+3A>T rs2147179049
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.1669-7C>G rs780719523
NM_001367721.1(CASK):c.1700T>C (p.Ile567Thr) rs1064797367
NM_001367721.1(CASK):c.1737+7A>T
NM_001367721.1(CASK):c.1759A>G (p.Arg587Gly) rs2147145150
NM_001367721.1(CASK):c.1790C>T (p.Thr597Ile)
NM_001367721.1(CASK):c.1819A>G (p.Thr607Ala) rs2065150872
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
NM_001367721.1(CASK):c.1842+6T>C rs2147142062
NM_001367721.1(CASK):c.1861T>C (p.Phe621Leu)
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val) rs1555980007
NM_001367721.1(CASK):c.2038T>C (p.Trp680Arg)
NM_001367721.1(CASK):c.2047G>A (p.Ala683Thr) rs1162012524
NM_001367721.1(CASK):c.2155+4_2155+6delinsA rs752382791
NM_001367721.1(CASK):c.2156-4_2156-3delinsAAAACGCAAAGTGTTTTAGTTTTTAGTGTTTAGTTAAAACACTAA rs2147096402
NM_001367721.1(CASK):c.2174T>C (p.Leu725Pro) rs1064794425
NM_001367721.1(CASK):c.2192T>C (p.Val731Ala) rs2064855229
NM_001367721.1(CASK):c.2230T>G (p.Leu744Val) rs2064854651
NM_001367721.1(CASK):c.2237G>A (p.Gly746Asp) rs1555975493
NM_001367721.1(CASK):c.2248G>T (p.Val750Phe) rs2147095961
NM_001367721.1(CASK):c.2295C>A (p.Asp765Glu)
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)
NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu) rs1064795035
NM_001367721.1(CASK):c.2446T>C (p.Tyr816His)
NM_001367721.1(CASK):c.2452A>T (p.Thr818Ser) rs2147085972
NM_001367721.1(CASK):c.2482G>A (p.Glu828Lys)
NM_001367721.1(CASK):c.2497G>A (p.Ala833Thr) rs1569288273
NM_001367721.1(CASK):c.2662C>T (p.His888Tyr) rs2147059682
NM_001367721.1(CASK):c.2686A>G (p.Asn896Asp)
NM_001367721.1(CASK):c.2707A>G (p.Ile903Val)
NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)
NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs)
NM_001367721.1(CASK):c.281T>C (p.Met94Thr) rs2147736309
NM_001367721.1(CASK):c.282G>A (p.Met94Ile)
NM_001367721.1(CASK):c.344A>T (p.Glu115Val) rs886043662
NM_001367721.1(CASK):c.357C>A (p.Ser119Arg)
NM_001367721.1(CASK):c.418A>G (p.Arg140Gly) rs2147718784
NM_001367721.1(CASK):c.421G>C (p.Asp141His)
NM_001367721.1(CASK):c.430-4T>C
NM_001367721.1(CASK):c.509G>C (p.Gly170Ala)
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.578G>T (p.Arg193Ile) rs1569379996
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.708+2dup
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser) rs886043863
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.835C>T (p.Arg279Trp)
NM_001367721.1(CASK):c.836G>A (p.Arg279Gln) rs2066559589
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001367721.1(CASK):c.898G>A (p.Ala300Thr) rs1442053618
NM_001367721.1(CASK):c.916G>A (p.Gly306Ser)
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr) rs771426240
NM_001367721.1(CASK):c.989A>G (p.Asp330Gly)

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