ClinVar Miner

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

Included ClinVar conditions (5):

Bardet-Biedl syndrome; COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11
COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11
Deafness, autosomal recessive 66; Nephronophthisis 19; Sclerosing cholangitis, neonatal
Nephronophthisis 11
Nephronophthisis 19

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP
NM_016356.5(DCDC2):c.349-2A>G	rs760040426
NM_016356.5(DCDC2):c.549dup (p.Val184fs)
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)	rs730880299
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)	rs909339162

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