ClinVar Miner

List of variants in gene ALG12 reported as pathogenic for ALG12-congenital disorder of glycosylation

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540 0.00003
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480 0.00001
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933 0.00001
NC_000022.10:g.(?_50297486)_(50307413_?)del
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.1129C>T (p.Gln377Ter)
NM_024105.4(ALG12):c.1156dup (p.Gln386fs) rs770711819
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter) rs121907935
NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)
NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter) rs563259198
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.21_33dup (p.Leu12fs)
NM_024105.4(ALG12):c.30del (p.Leu12fs)
NM_024105.4(ALG12):c.336G>A (p.Trp112Ter)
NM_024105.4(ALG12):c.424T>G (p.Phe142Val) rs28942090
NM_024105.4(ALG12):c.424_428delinsCAGTTCCAC (p.Phe142fs)
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro) rs121907934
NM_024105.4(ALG12):c.502G>T (p.Glu168Ter) rs754565538
NM_024105.4(ALG12):c.522G>A (p.Trp174Ter) rs2146607840
NM_024105.4(ALG12):c.688dup (p.Tyr230fs) rs1569175744
NM_024105.4(ALG12):c.698_699del (p.Arg233fs)
NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)
NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter) rs2147585338
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722

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