ClinVar Miner

List of variants studied for Koolen-de Vries syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1834C>T (p.Pro612Ser)
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs) rs1568366050
NM_015443.4(KANSL1):c.487A>G (p.Lys163Glu)
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297

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