ClinVar Miner

List of variants in gene CDK13 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_003718.5(CDK13):c.3508G>A (p.Val1170Met) rs3204309 0.00488
NM_003718.5(CDK13):c.2009C>G (p.Thr670Arg) rs34775357 0.00460
NM_003718.5(CDK13):c.2124C>T (p.Ile708=) rs142726395 0.00360
NM_003718.5(CDK13):c.1066C>G (p.Pro356Ala) rs17537669 0.00258
NM_003718.5(CDK13):c.2985C>T (p.Cys995=) rs56028037 0.00218
NM_003718.5(CDK13):c.642C>T (p.Arg214=) rs143271914 0.00186
NM_003718.5(CDK13):c.1260A>G (p.Ser420=) rs139746338 0.00135
NM_003718.5(CDK13):c.2180C>T (p.Thr727Ile) rs140848307 0.00107
NM_003718.5(CDK13):c.2027G>A (p.Ser676Asn) rs139935261 0.00028
NM_003718.5(CDK13):c.4266C>T (p.Asp1422=) rs139981763 0.00024
NM_003718.5(CDK13):c.1242G>A (p.Pro414=) rs202080779 0.00013
NM_003718.5(CDK13):c.1462A>G (p.Lys488Glu) rs780866053 0.00005
NM_003718.5(CDK13):c.1401C>T (p.Ala467=) rs137937704 0.00003
NM_003718.5(CDK13):c.1928G>A (p.Arg643Gln) rs1273107384 0.00002
NM_003718.5(CDK13):c.3737C>T (p.Thr1246Met) rs761120542 0.00001
NM_003718.5(CDK13):c.1019C>T (p.Ser340Phe) rs13622
NM_003718.5(CDK13):c.1023C>T (p.Pro341=)
NM_003718.5(CDK13):c.132G>A (p.Leu44=)
NM_003718.5(CDK13):c.1408G>A (p.Ala470Thr)
NM_003718.5(CDK13):c.144C>T (p.Leu48=)
NM_003718.5(CDK13):c.1555A>G (p.Lys519Glu) rs2116266403
NM_003718.5(CDK13):c.1644G>A (p.Val548=)
NM_003718.5(CDK13):c.172C>G (p.Leu58Val)
NM_003718.5(CDK13):c.1732G>A (p.Val578Ile)
NM_003718.5(CDK13):c.1871+6T>C
NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)
NM_003718.5(CDK13):c.2021T>G (p.Leu674Ter) rs2116310614
NM_003718.5(CDK13):c.2068A>G (p.Thr690Ala)
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2181T>G (p.Thr727=)
NM_003718.5(CDK13):c.2210G>A (p.Arg737His) rs1784692603
NM_003718.5(CDK13):c.2227G>T (p.Glu743Ter) rs2116327525
NM_003718.5(CDK13):c.2235T>C (p.Phe745=)
NM_003718.5(CDK13):c.2412A>G (p.Ser804=)
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.2600+4936_2600+4938del
NM_003718.5(CDK13):c.2600+4999G>C
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala) rs2150526768
NM_003718.5(CDK13):c.2627C>T (p.Thr876Ile) rs2150526779
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003718.5(CDK13):c.2702+6A>T
NM_003718.5(CDK13):c.3258C>G (p.His1086Gln)
NM_003718.5(CDK13):c.3502C>T (p.Pro1168Ser)
NM_003718.5(CDK13):c.3530C>T (p.Ala1177Val)
NM_003718.5(CDK13):c.3758G>A (p.Arg1253Gln) rs150957134
NM_003718.5(CDK13):c.3888C>T (p.Ala1296=) rs150235453
NM_003718.5(CDK13):c.4093C>T (p.Arg1365Ter)
NM_003718.5(CDK13):c.4121T>C (p.Ile1374Thr)
NM_003718.5(CDK13):c.4292A>G (p.His1431Arg)
NM_003718.5(CDK13):c.4409C>G (p.Pro1470Arg)
NM_003718.5(CDK13):c.4444A>C (p.Thr1482Pro)
NM_003718.5(CDK13):c.4461A>G (p.Gly1487=)
NM_003718.5(CDK13):c.45G>A (p.Leu15=)
NM_003718.5(CDK13):c.499G>A (p.Ala167Thr)
NM_003718.5(CDK13):c.501G>A (p.Ala167=)
NM_003718.5(CDK13):c.527dup (p.Ser177fs)
NM_003718.5(CDK13):c.641G>T (p.Arg214Leu)
NM_003718.5(CDK13):c.650G>A (p.Arg217Gln)
NM_003718.5(CDK13):c.657G>A (p.Arg219=)
NM_003718.5(CDK13):c.729C>G (p.Ala243=)
NM_003718.5(CDK13):c.741G>A (p.Lys247=)
NM_003718.5(CDK13):c.848C>T (p.Thr283Ile)
NM_003718.5(CDK13):c.867G>A (p.Pro289=)
NM_003718.5(CDK13):c.869C>T (p.Pro290Leu) rs923708985
NM_003718.5(CDK13):c.955C>T (p.Leu319=)
NM_003718.5(CDK13):c.965G>C (p.Arg322Pro)
NM_003718.5(CDK13):c.992C>T (p.Ala331Val)

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