ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_014908.3(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.3(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.3(DOLK):c.114A>G (p.Val38=) rs142000757
NM_014908.3(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.3(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.159C>G (p.Ala53=) rs199857223
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.3(DOLK):c.52G>A (p.Gly18Arg) rs777998210
NM_014908.3(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.671A>T (p.Asp224Val) rs17485436
NM_014908.3(DOLK):c.807T>C (p.Gly269=) rs769294980
NM_014908.3(DOLK):c.975C>A (p.Ser325=) rs149462670

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