ClinVar Miner

List of variants in gene CDK13 reported by Ambry Genetics

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Gene type:
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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_003718.5(CDK13):c.1459G>T (p.Ala487Ser) rs34910103 0.00034
NM_003718.5(CDK13):c.2027G>A (p.Ser676Asn) rs139935261 0.00028
NM_003718.5(CDK13):c.3401G>T (p.Gly1134Val) rs188313505 0.00026
NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser) rs147108931 0.00018
NM_003718.5(CDK13):c.3094G>A (p.Gly1032Ser) rs200412973 0.00006
NM_003718.5(CDK13):c.1462A>G (p.Lys488Glu) rs780866053 0.00005
NM_003718.5(CDK13):c.509C>T (p.Ala170Val) rs1029840854 0.00002
NM_003718.5(CDK13):c.1012C>T (p.Arg338Cys) rs1787215892 0.00001
NM_003718.5(CDK13):c.1028C>T (p.Pro343Leu)
NM_003718.5(CDK13):c.1082C>A (p.Pro361His)
NM_003718.5(CDK13):c.1090C>T (p.Arg364Cys)
NM_003718.5(CDK13):c.1156C>T (p.Pro386Ser)
NM_003718.5(CDK13):c.1163G>A (p.Ser388Asn)
NM_003718.5(CDK13):c.1205T>C (p.Val402Ala)
NM_003718.5(CDK13):c.1228C>T (p.Arg410Ter)
NM_003718.5(CDK13):c.1327C>G (p.Leu443Val)
NM_003718.5(CDK13):c.1412C>T (p.Ala471Val)
NM_003718.5(CDK13):c.1471A>G (p.Asn491Asp)
NM_003718.5(CDK13):c.1486A>G (p.Thr496Ala)
NM_003718.5(CDK13):c.1499C>G (p.Thr500Arg)
NM_003718.5(CDK13):c.1609G>A (p.Ala537Thr)
NM_003718.5(CDK13):c.1646A>G (p.Glu549Gly)
NM_003718.5(CDK13):c.1754A>T (p.Lys585Ile)
NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.1871+6T>C
NM_003718.5(CDK13):c.1930T>C (p.Cys644Arg)
NM_003718.5(CDK13):c.1959del (p.Glu654fs)
NM_003718.5(CDK13):c.1980T>A (p.Asp660Glu)
NM_003718.5(CDK13):c.2008A>C (p.Thr670Pro)
NM_003718.5(CDK13):c.2009C>T (p.Thr670Ile)
NM_003718.5(CDK13):c.2068A>G (p.Thr690Ala)
NM_003718.5(CDK13):c.2084T>C (p.Ile695Thr)
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2423A>G (p.His808Arg)
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter) rs775898119
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003718.5(CDK13):c.2716G>A (p.Glu906Lys) rs1554335512
NM_003718.5(CDK13):c.2870G>A (p.Arg957His)
NM_003718.5(CDK13):c.3058T>A (p.Leu1020Ile)
NM_003718.5(CDK13):c.3091A>T (p.Met1031Leu)
NM_003718.5(CDK13):c.3197C>T (p.Ser1066Leu)
NM_003718.5(CDK13):c.3289A>T (p.Asn1097Tyr)
NM_003718.5(CDK13):c.3313G>A (p.Val1105Ile)
NM_003718.5(CDK13):c.3326A>G (p.Asp1109Gly)
NM_003718.5(CDK13):c.3375G>C (p.Gln1125His)
NM_003718.5(CDK13):c.3812C>T (p.Thr1271Ile)
NM_003718.5(CDK13):c.3865T>A (p.Ser1289Thr)
NM_003718.5(CDK13):c.3988G>C (p.Val1330Leu)
NM_003718.5(CDK13):c.4039G>T (p.Ala1347Ser)
NM_003718.5(CDK13):c.4039_4040delinsTT (p.Ala1347Phe)
NM_003718.5(CDK13):c.4040C>T (p.Ala1347Val)
NM_003718.5(CDK13):c.4096C>T (p.Arg1366Cys)
NM_003718.5(CDK13):c.4108G>C (p.Gly1370Arg)
NM_003718.5(CDK13):c.4121T>C (p.Ile1374Thr)
NM_003718.5(CDK13):c.4192G>C (p.Glu1398Gln)
NM_003718.5(CDK13):c.4238A>G (p.Asn1413Ser)
NM_003718.5(CDK13):c.4340C>T (p.Pro1447Leu)
NM_003718.5(CDK13):c.4360C>G (p.Pro1454Ala)
NM_003718.5(CDK13):c.4371G>A (p.Met1457Ile)
NM_003718.5(CDK13):c.4409C>T (p.Pro1470Leu)
NM_003718.5(CDK13):c.4437G>C (p.Gln1479His)
NM_003718.5(CDK13):c.4444A>C (p.Thr1482Pro)
NM_003718.5(CDK13):c.521C>T (p.Thr174Met)
NM_003718.5(CDK13):c.545C>T (p.Ala182Val)
NM_003718.5(CDK13):c.622C>A (p.Arg208Ser)
NM_003718.5(CDK13):c.645G>T (p.Glu215Asp)
NM_003718.5(CDK13):c.730G>A (p.Glu244Lys)
NM_003718.5(CDK13):c.758G>A (p.Ser253Asn)
NM_003718.5(CDK13):c.827C>T (p.Ser276Leu)
NM_003718.5(CDK13):c.832G>A (p.Ala278Thr)
NM_003718.5(CDK13):c.878A>G (p.Tyr293Cys)
NM_003718.5(CDK13):c.901del (p.Arg301fs)
NM_003718.5(CDK13):c.925G>A (p.Ala309Thr)
NM_003718.5(CDK13):c.956T>G (p.Leu319Arg)

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