ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2797_2799CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_005216.4(DDOST):c.696G>C (p.Gln232His) rs867045420
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_019109.4(ALG1):c.827G>A (p.Arg276Gln) rs201975029
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365
NM_024740.2(ALG9):c.[1173+2T>A];[1173+2T>A] rs786205134
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys)
NM_178862.3(STT3B):c.619A>G (p.Ile207Val) rs780102016

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