ClinVar Miner

List of variants reported as benign for congenital disorder of glycosylation type I by Natera, Inc.

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01480
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_000303.3(PMM2):c.640-46G>A rs113866602 0.00632
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.640-28C>G rs181837170
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_002435.3(MPI):c.670+9A>G rs7495739

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