ClinVar Miner

List of variants in gene CHEK2 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 33
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HGVS dbSNP
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*26A>G
NM_007194.4(CHEK2):c.*48A>T
NM_007194.4(CHEK2):c.*59C>T rs540410451
NM_007194.4(CHEK2):c.-25C>T rs886057329
NM_007194.4(CHEK2):c.-39C>G
NM_007194.4(CHEK2):c.-44G>C rs886057330
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) rs549755590
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys) rs876658872
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu) rs779607427

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