ClinVar Miner

List of variants reported as likely pathogenic for MOGS-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006302.3(MOGS):c.646del (p.Val216fs) rs777654978 0.00002
NM_006302.3(MOGS):c.329G>A (p.Arg110His) rs863225089 0.00001
NM_006302.3(MOGS):c.1422G>A (p.Trp474Ter) rs1671940053
NM_006302.3(MOGS):c.1603C>T (p.Arg535Ter)
NM_006302.3(MOGS):c.1880T>C (p.Leu627Pro) rs757997140
NM_006302.3(MOGS):c.2305T>C (p.Tyr769His)
NM_006302.3(MOGS):c.353-1G>A
NM_006302.3(MOGS):c.455dup (p.Asp152fs)

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