ClinVar Miner

List of variants reported as benign for Congenital disorder of glycosylation type 1M

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Total variants: 7
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HGVS dbSNP
NM_014908.3(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.3(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968

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