ClinVar Miner

List of variants in gene DCDC2 studied for Nephronophthisis 19

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Total variants: 11
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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.349-2A>G rs760040426 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
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.901C>T (p.Gln301Ter)

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