ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.426-13C>T rs807703 0.98337
NM_016356.5(DCDC2):c.*3C>G rs9358755 0.72045
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly) rs2274305 0.51051
NM_016356.5(DCDC2):c.1017C>T (p.Val339=) rs9467075 0.13584
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
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.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
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.349-2A>G rs760040426 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
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.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.349-16dup rs746353912
NM_016356.5(DCDC2):c.349-1G>T
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016356.5(DCDC2):c.557+1G>T rs763299947
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299
NM_016356.5(DCDC2):c.698C>T (p.Pro233Leu)
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)
NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro) rs77150627
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675

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