ClinVar Miner

List of variants in gene CDK13 studied for Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_003718.5(CDK13):c.1207C>T (p.Leu403Phe) rs3735137 0.00138
NM_003718.5(CDK13):c.2180C>T (p.Thr727Ile) rs140848307 0.00107
NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser) rs147108931 0.00018
NM_003718.5(CDK13):c.1347G>T (p.Leu449=) rs150303277 0.00014
NM_003718.5(CDK13):c.4097G>A (p.Arg1366His) rs3801237 0.00005
NM_003718.5(CDK13):c.3271G>A (p.Glu1091Lys) rs182845040 0.00003
NM_003718.5(CDK13):c.509C>T (p.Ala170Val) rs1029840854 0.00002
NM_003718.5(CDK13):c.796A>G (p.Ser266Gly) rs1469921868 0.00002
NM_003718.5(CDK13):c.3737C>T (p.Thr1246Met) rs761120542 0.00001
NM_003718.5(CDK13):c.4008G>C (p.Lys1336Asn) rs754856422 0.00001
NM_003718.5(CDK13):c.875C>T (p.Ala292Val) rs1412678396 0.00001
NM_003718.5(CDK13):c.1064T>A (p.Leu355Gln)
NM_003718.5(CDK13):c.1093C>T (p.Arg365Cys) rs771169130
NM_003718.5(CDK13):c.1301G>A (p.Arg434His)
NM_003718.5(CDK13):c.1401_1418dup (p.Ala471_Ala476dup) rs749812196
NM_003718.5(CDK13):c.1490A>G (p.Lys497Arg)
NM_003718.5(CDK13):c.1497C>A (p.Asn499Lys) rs1258709717
NM_003718.5(CDK13):c.1526C>G (p.Thr509Arg) rs1403159563
NM_003718.5(CDK13):c.1583G>C (p.Ser528Thr) rs1338306814
NM_003718.5(CDK13):c.1630C>T (p.Gln544Ter)
NM_003718.5(CDK13):c.1768A>G (p.Ser590Gly)
NM_003718.5(CDK13):c.1783G>T (p.Glu595Ter)
NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.1856A>T (p.Asp619Val)
NM_003718.5(CDK13):c.1865C>T (p.Ala622Val)
NM_003718.5(CDK13):c.1960G>A (p.Glu654Lys)
NM_003718.5(CDK13):c.1984_1986del (p.Ser662del)
NM_003718.5(CDK13):c.1987A>T (p.Lys663Ter)
NM_003718.5(CDK13):c.2029A>T (p.Lys677Ter)
NM_003718.5(CDK13):c.2091G>A (p.Trp697Ter)
NM_003718.5(CDK13):c.2140G>C (p.Gly714Arg) rs1057519633
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2194G>A (p.Ala732Thr) rs1583972803
NM_003718.5(CDK13):c.2200A>G (p.Lys734Glu) rs1064795731
NM_003718.5(CDK13):c.2201A>C (p.Lys734Thr) rs1784692399
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg) rs1784692399
NM_003718.5(CDK13):c.2202A>C (p.Lys734Asn)
NM_003718.5(CDK13):c.2209C>T (p.Arg737Cys) rs1064796451
NM_003718.5(CDK13):c.2246C>A (p.Ala749Glu) rs1562722163
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter) rs1295790880
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_003718.5(CDK13):c.2308del (p.Glu769_Ile770insTer)
NM_003718.5(CDK13):c.2322_2325del (p.Glu775fs) rs2116327857
NM_003718.5(CDK13):c.2427del (p.Phe809fs) rs2150515547
NM_003718.5(CDK13):c.2450T>A (p.Phe817Tyr)
NM_003718.5(CDK13):c.2506A>G (p.Arg836Gly)
NM_003718.5(CDK13):c.2507G>T (p.Arg836Ile)
NM_003718.5(CDK13):c.2510A>G (p.Asp837Gly) rs1785729477
NM_003718.5(CDK13):c.2510A>T (p.Asp837Val) rs1785729477
NM_003718.5(CDK13):c.2511T>G (p.Asp837Glu) rs759838977
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003718.5(CDK13):c.2525A>C (p.Asn842Thr)
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2525A>T (p.Asn842Ile)
NM_003718.5(CDK13):c.2563G>A (p.Asp855Asn) rs2150517037
NM_003718.5(CDK13):c.2563G>C (p.Asp855His) rs2150517037
NM_003718.5(CDK13):c.2563G>T (p.Asp855Tyr) rs2150517037
NM_003718.5(CDK13):c.2564A>C (p.Asp855Ala)
NM_003718.5(CDK13):c.2570G>A (p.Gly857Glu) rs1584035995
NM_003718.5(CDK13):c.2575G>C (p.Ala859Pro)
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter) rs775898119
NM_003718.5(CDK13):c.2603G>A (p.Arg868Gln) rs1786184821
NM_003718.5(CDK13):c.2609A>G (p.Tyr870Cys) rs2150526766
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala) rs2150526768
NM_003718.5(CDK13):c.2620G>T (p.Val874Leu)
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003718.5(CDK13):c.2639G>A (p.Arg880His)
NM_003718.5(CDK13):c.2719C>T (p.Leu907Phe)
NM_003718.5(CDK13):c.2747C>T (p.Ala916Val)
NM_003718.5(CDK13):c.2797C>G (p.Pro933Ala) rs2150536000
NM_003718.5(CDK13):c.2898-1G>A rs1786599399
NM_003718.5(CDK13):c.2957G>A (p.Arg986His)
NM_003718.5(CDK13):c.2996G>A (p.Arg999Gln)
NM_003718.5(CDK13):c.3109G>A (p.Val1037Ile)
NM_003718.5(CDK13):c.3125C>G (p.Ala1042Gly)
NM_003718.5(CDK13):c.3190C>T (p.Pro1064Ser) rs767986350
NM_003718.5(CDK13):c.3245G>A (p.Gly1082Asp)
NM_003718.5(CDK13):c.3261A>T (p.Leu1087Phe) rs2150547167
NM_003718.5(CDK13):c.3481C>G (p.Pro1161Ala) rs1349469992
NM_003718.5(CDK13):c.3629C>A (p.Ser1210Ter)
NM_003718.5(CDK13):c.3686C>T (p.Ser1229Leu)
NM_003718.5(CDK13):c.3988G>C (p.Val1330Leu)
NM_003718.5(CDK13):c.4081C>G (p.Pro1361Ala) rs746659778
NM_003718.5(CDK13):c.4249A>G (p.Met1417Val) rs1702593014
NM_003718.5(CDK13):c.4334C>T (p.Thr1445Met)
NM_003718.5(CDK13):c.4403A>G (p.Glu1468Gly) rs1787010564
NM_003718.5(CDK13):c.51G>A (p.Trp17Ter)
NM_003718.5(CDK13):c.521C>G (p.Thr174Arg) rs995209864
NM_003718.5(CDK13):c.70G>T (p.Glu24Ter)
NM_003718.5(CDK13):c.806del (p.Ser269fs) rs1583893433
NM_003718.5(CDK13):c.850A>G (p.Lys284Glu)
NM_003718.5(CDK13):c.900C>G (p.Tyr300Ter)
NM_003718.5(CDK13):c.909C>G (p.Asp303Glu)
NM_003718.5(CDK13):c.930C>G (p.Tyr310Ter)
NM_003718.5(CDK13):c.997C>T (p.Gln333Ter)
NM_003718.5(CDK13):c.[838C>T;839G>C]

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