ClinVar Miner

List of variants reported as uncertain significance for Deficiency of galactokinase by Invitae

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616 0.00011
NM_000154.2(GALK1):c.267G>T (p.Gln89His) rs144915547 0.00006
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432 0.00005
NM_000154.2(GALK1):c.382G>A (p.Val128Met) rs767156604 0.00003
NM_000154.2(GALK1):c.552C>G (p.Ile184Met) rs773416476 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000154.2(GALK1):c.1025G>A (p.Arg342His) rs867405975 0.00002
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426 0.00002
NM_000154.2(GALK1):c.836G>A (p.Arg279Gln) rs779054525 0.00002
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly) rs201681295 0.00002
NM_000154.2(GALK1):c.104C>T (p.Pro35Leu) rs766223704 0.00001
NM_000154.2(GALK1):c.1057G>A (p.Val353Met) rs749948423 0.00001
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg) rs1214866139 0.00001
NM_000154.2(GALK1):c.1097G>A (p.Arg366Gln) rs538714933 0.00001
NM_000154.2(GALK1):c.1175T>C (p.Leu392Ser) rs371755069 0.00001
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586 0.00001
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln) rs572575400 0.00001
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp) rs771717336 0.00001
NM_000154.2(GALK1):c.1055C>A (p.Thr352Lys)
NM_000154.2(GALK1):c.1096C>G (p.Arg366Gly) rs536478616
NM_000154.2(GALK1):c.1132T>G (p.Phe378Val)
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr) rs536209426
NM_000154.2(GALK1):c.121A>T (p.Ile41Phe) rs1185378925
NM_000154.2(GALK1):c.163A>G (p.Met55Val) rs925336919
NM_000154.2(GALK1):c.270T>G (p.Phe90Leu)
NM_000154.2(GALK1):c.37C>A (p.Leu13Met) rs1001223598
NM_000154.2(GALK1):c.406G>C (p.Gly136Arg)
NM_000154.2(GALK1):c.442G>T (p.Ala148Ser)
NM_000154.2(GALK1):c.56C>A (p.Ala19Asp)
NM_000154.2(GALK1):c.719G>A (p.Arg240Gln)
NM_000154.2(GALK1):c.796G>A (p.Ala266Thr)
NM_000154.2(GALK1):c.826C>T (p.Arg276Trp)
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser) rs104894572
NM_000154.2(GALK1):c.859C>T (p.Arg287Cys)
NM_000154.2(GALK1):c.866C>T (p.Ala289Val)
NM_000154.2(GALK1):c.919A>C (p.Met307Leu) rs2061566977
NM_000154.2(GALK1):c.949G>A (p.Asp317Asn)

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