ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901

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