ClinVar Miner

List of variants studied for DPM3-congenital disorder of glycosylation by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) rs778481307 0.00001
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) rs745692004
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) rs121908155
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) rs121908155

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