ClinVar Miner

List of variants reported as likely pathogenic for congenital disorder of glycosylation type I by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NC_000016.9:g.(?_5130947)_(5147740_?)del
NC_000016.9:g.(?_8904926)_(8926102_?)del
NC_000016.9:g.(?_8941558)_(8941692_?)del
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
NM_013339.4(ALG6):c.902+1G>A
NM_014908.3(DOLK):c.731dup (p.Phe245fs)
NM_019109.4(ALG1):c.1187+3A>G rs369160589
NM_019109.4(ALG1):c.826C>T (p.Arg276Trp) rs151173406
NM_019109.4(ALG1):c.863-2A>G

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