ClinVar Miner

List of variants studied for Congenital disorder of glycosylation type 1u by Invitae

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Total variants: 9
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HGVS dbSNP
NC_000009.11:g.(?_130216797)_(130953151_?)dup
NM_003863.3(DPM2):c.107G>A (p.Ser36Asn)
NM_003863.3(DPM2):c.145T>A (p.Tyr49Asn) rs755055369
NM_003863.3(DPM2):c.146A>G (p.Tyr49Cys) rs779093563
NM_003863.3(DPM2):c.154G>A (p.Ala52Thr) rs147263320
NM_003863.3(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.3(DPM2):c.183G>A (p.Leu61=) rs11552794
NM_003863.3(DPM2):c.208T>G (p.Ser70Ala) rs759597928
NM_003863.3(DPM2):c.212_213delinsGC (p.Tyr71Cys)

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