ClinVar Miner

List of variants studied for galactosemia by Mendelics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_138801.3(GALM):c.424G>A (p.Gly142Arg) rs114440198 0.00194
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.142C>A (p.Arg48Ser) rs886042088
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180

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