ClinVar Miner

List of variants in gene DCDC2 studied for Senior-Boichis syndrome

Included ClinVar conditions (8):
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.426-13C>T rs807703 0.98438
NM_016356.5(DCDC2):c.*3C>G rs9358755 0.73278
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305 0.51051
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075 0.13335
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00291
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00232
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_016356.5(DCDC2):c.349-15C>T rs200146922 0.00025
NM_016356.5(DCDC2):c.1009G>C (p.Val337Leu) rs187789776 0.00013
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00013
NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile) rs200534758 0.00011
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) rs1056029060 0.00006
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) rs781510673 0.00005
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe) rs200595563 0.00005
NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys) rs761388263 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_016356.5(DCDC2):c.1028C>T (p.Pro343Leu) rs766600237 0.00002
NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys) rs746347880 0.00002
NM_016356.5(DCDC2):c.1327-15T>A rs1027558772 0.00002
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00002
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) rs1043649931 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu) rs747652700 0.00001
NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala) rs763350514 0.00001
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) rs1050411259 0.00001
NM_016356.5(DCDC2):c.923-18G>A rs768651764 0.00001
NM_016356.5(DCDC2):c.1013C>T (p.Pro338Leu)
NM_016356.5(DCDC2):c.1018G>A (p.Asp340Asn) rs1389720008
NM_016356.5(DCDC2):c.1037T>C (p.Ile346Thr)
NM_016356.5(DCDC2):c.1109A>G (p.Asn370Ser)
NM_016356.5(DCDC2):c.1137G>T (p.Arg379Ser)
NM_016356.5(DCDC2):c.1151C>G (p.Ala384Gly)
NM_016356.5(DCDC2):c.1154C>G (p.Pro385Arg)
NM_016356.5(DCDC2):c.1198C>A (p.Arg400Ser)
NM_016356.5(DCDC2):c.1213A>G (p.Asn405Asp)
NM_016356.5(DCDC2):c.1227T>A (p.Asp409Glu)
NM_016356.5(DCDC2):c.1326+6T>C
NM_016356.5(DCDC2):c.1427C>T (p.Ala476Val)
NM_016356.5(DCDC2):c.294-2A>G rs1554121105
NM_016356.5(DCDC2):c.349-16dup rs746353912
NM_016356.5(DCDC2):c.349-1G>T rs2532402335
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.389G>A (p.Arg130His)
NM_016356.5(DCDC2):c.519C>G (p.Val173=)
NM_016356.5(DCDC2):c.529dup (p.Ile177fs) rs904944428
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016356.5(DCDC2):c.557+1G>T rs763299947
NM_016356.5(DCDC2):c.558G>C (p.Arg186Ser)
NM_016356.5(DCDC2):c.604G>T (p.Glu202Ter)
NM_016356.5(DCDC2):c.606G>T (p.Glu202Asp)
NM_016356.5(DCDC2):c.622G>A (p.Val208Met)
NM_016356.5(DCDC2):c.623T>C (p.Val208Ala)
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299
NM_016356.5(DCDC2):c.650A>T (p.Lys217Ile) rs1357403456
NM_016356.5(DCDC2):c.655C>T (p.Pro219Ser)
NM_016356.5(DCDC2):c.686C>G (p.Thr229Arg)
NM_016356.5(DCDC2):c.686C>T (p.Thr229Met)
NM_016356.5(DCDC2):c.698C>T (p.Pro233Leu) rs1203518827
NM_016356.5(DCDC2):c.705-2A>G rs762516961
NM_016356.5(DCDC2):c.730A>G (p.Ile244Val)
NM_016356.5(DCDC2):c.760-16dup
NM_016356.5(DCDC2):c.766G>A (p.Asp256Asn)
NM_016356.5(DCDC2):c.780G>T (p.Lys260Asn)
NM_016356.5(DCDC2):c.836A>T (p.Lys279Ile)
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.847G>A (p.Val283Met)
NM_016356.5(DCDC2):c.899C>T (p.Ser300Leu)
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter) rs760084731
NM_016356.5(DCDC2):c.908C>G (p.Thr303Ser)
NM_016356.5(DCDC2):c.921T>C (p.Ser307=)
NM_016356.5(DCDC2):c.949G>C (p.Glu317Gln)
NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro) rs77150627
NM_016356.5(DCDC2):c.967G>A (p.Gly323Arg)
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg) rs146587418
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016356.5(DCDC2):c.995A>G (p.Asp332Gly)

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