ClinVar Miner

List of variants in gene DOLK reported as benign for DK1-congenital disorder of glycosylation

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01730
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00277
NM_014908.4(DOLK):c.771C>T (p.Ile257=) rs147416890 0.00205
NM_014908.4(DOLK):c.873C>T (p.Leu291=) rs148646968 0.00073
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) rs145292760 0.00039
NM_014908.4(DOLK):c.579G>A (p.Glu193=) rs28365522 0.00031
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806 0.00019

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