ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val) rs398123609
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401

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