ClinVar Miner

List of variants studied for ALG3-congenital disorder of glycosylation by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00005
NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr) rs376927697 0.00001
NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys) rs1085307981 0.00001
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser) rs1719068613 0.00001
NM_005787.6(ALG3):c.611C>T (p.Ala204Val) rs1719034314 0.00001
NM_005787.6(ALG3):c.656T>C (p.Leu219Pro) rs1423328264 0.00001
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter) rs1023520147 0.00001
NM_005787.6(ALG3):c.914C>A (p.Ala305Asp) rs373514167 0.00001
NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu) rs2108442073
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) rs2108440795
NM_005787.6(ALG3):c.752T>C (p.Leu251Pro) rs1085307980
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys) rs747953768
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter) rs1553827968

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