ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_003863.3(DPM2):c.154G>A (p.Ala52Thr) rs147263320
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901

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